Linked Data
dbSNP Id:
rs12644284
gnomAD v2:
4-154154000-A-G
gnomAD v3:
4-153232848-A-G
gnomAD v4:
4-153232848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153232848A>G , CM000666.2:g.153232848A>G | GRCh38 |
| NC_000004.11:g.154154000A>G , CM000666.1:g.154154000A>G | GRCh37 |
| NC_000004.10:g.154373450A>G | NCBI36 |
| NG_041788.1:g.84731A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338700.10:c.30+28288A>G MANE Select | ENSP00000339659.5:n.30+28288A>G | |
| ENST00000433687.2:c.-125+28288A>G | ENSP00000400375.2:n.-125+28288A>G | |
| ENST00000437508.7:c.-48-37490A>G | ENSP00000415812.2:n.-48-37490A>G | |
| ENST00000441616.6:c.-49+28288A>G | ENSP00000400879.2:n.-49+28288A>G | |
| ENST00000460908.2:c.-49+28288A>G | ENSP00000488751.2:n.-49+28288A>G | |
| ENST00000479711.6:n.115+28288A>G | ||
| ENST00000494872.6:c.-52+28288A>G | ENSP00000488229.2:n.-52+28288A>G | |
| ENST00000502281.3:c.-139-5022A>G | ENSP00000488602.2:n.-139-5022A>G | |
| ENST00000632856.2:c.-52+28288A>G | ENSP00000487836.1:n.-52+28288A>G | |
| ENST00000674680.1:c.-52+28288A>G | ENSP00000502469.1:n.-52+28288A>G | |
| ENST00000674718.1:n.118+28288A>G | ||
| ENST00000674786.1:c.-49+28288A>G | ENSP00000502289.1:n.-49+28288A>G | |
| ENST00000674787.1:n.118+28288A>G | ||
| ENST00000674872.1:c.-52+9809A>G | ENSP00000501979.1:n.-52+9809A>G | |
| ENST00000674874.1:c.-51-37487A>G | ENSP00000502519.1:n.-51-37487A>G | |
| ENST00000674876.1:c.-49+27624A>G | ENSP00000501652.1:n.-49+27624A>G | |
| ENST00000674967.1:c.-49+28288A>G | ENSP00000501627.1:n.-49+28288A>G | |
| ENST00000674976.1:c.-49+9809A>G | ENSP00000502356.1:n.-49+9809A>G | |
| ENST00000675049.1:n.733+9809A>G | ||
| ENST00000675054.1:c.-136-5022A>G | ENSP00000502543.1:n.-136-5022A>G | |
| ENST00000675063.1:c.-49+28288A>G | ENSP00000501562.1:n.-49+28288A>G | |
| ENST00000675079.1:c.-49+9809A>G | ENSP00000502677.1:n.-49+9809A>G | |
| ENST00000675136.1:c.-52+28288A>G | ENSP00000502292.1:n.-52+28288A>G | |
| ENST00000675146.1:c.-125+10089A>G | ENSP00000501760.1:n.-125+10089A>G | |
| ENST00000675159.1:c.-52+27624A>G | ENSP00000501792.1:n.-52+27624A>G | |
| ENST00000675239.1:c.-52+28288A>G | ENSP00000501915.1:n.-52+28288A>G | |
| ENST00000675293.1:c.-49+28288A>G | ENSP00000502348.1:n.-49+28288A>G | |
| ENST00000675315.1:c.-48-37490A>G | ENSP00000502676.1:n.-48-37490A>G | |
| ENST00000675340.1:c.-49+28288A>G | ENSP00000502290.1:n.-49+28288A>G | |
| ENST00000675343.1:c.-52+9809A>G | ENSP00000502344.1:n.-52+9809A>G | |
| ENST00000675363.1:n.92+28288A>G | ||
| ENST00000675384.1:c.-52+9809A>G | ENSP00000502114.1:n.-52+9809A>G | |
| ENST00000675411.1:c.-52+28288A>G | ENSP00000502140.1:n.-52+28288A>G | |
| ENST00000675425.1:c.-52+28288A>G | ENSP00000502492.1:n.-52+28288A>G | |
| ENST00000675492.1:c.-49+28288A>G | ENSP00000502720.1:n.-49+28288A>G | |
| ENST00000675518.1:c.-51-37487A>G | ENSP00000501852.1:n.-51-37487A>G | |
| ENST00000675611.1:c.-52+9809A>G | ENSP00000501564.1:n.-52+9809A>G | |
| ENST00000675623.1:c.-52+28288A>G | ENSP00000501690.1:n.-52+28288A>G | |
| ENST00000675627.1:c.-49+28288A>G | ENSP00000502501.1:n.-49+28288A>G | |
| ENST00000675673.1:c.-52+28288A>G | ENSP00000502083.1:n.-52+28288A>G | |
| ENST00000675710.1:c.-125+28288A>G | ENSP00000501997.1:n.-125+28288A>G | |
| ENST00000675744.1:c.-52+9809A>G | ENSP00000502458.1:n.-52+9809A>G | |
| ENST00000675745.1:c.-48-37490A>G | ENSP00000501662.1:n.-48-37490A>G | |
| ENST00000675780.1:c.-52+28288A>G | ENSP00000502541.1:n.-52+28288A>G | |
| ENST00000675782.1:c.-124-43045A>G | ENSP00000502776.1:n.-124-43045A>G | |
| ENST00000675835.1:c.-52+10089A>G | ENSP00000501951.1:n.-52+10089A>G | |
| ENST00000675838.1:c.-52+28288A>G | ENSP00000501593.1:n.-52+28288A>G | |
| ENST00000675862.1:n.118+28288A>G | ||
| ENST00000675871.1:n.733+9809A>G | ||
| ENST00000675899.1:c.-52+9809A>G | ENSP00000502775.1:n.-52+9809A>G | |
| ENST00000676029.1:c.-52+28288A>G | ENSP00000501704.1:n.-52+28288A>G | |
| ENST00000676033.1:c.-52+9809A>G | ENSP00000501844.1:n.-52+9809A>G | |
| ENST00000676158.1:c.-52+28288A>G | ENSP00000502658.1:n.-52+28288A>G | |
| ENST00000676167.1:c.-49+9809A>G | ENSP00000502331.1:n.-49+9809A>G | |
| ENST00000676169.1:n.118+28288A>G | ||
| ENST00000676172.1:c.-52+28288A>G | ENSP00000501822.1:n.-52+28288A>G | |
| ENST00000676220.1:c.-52+9809A>G | ENSP00000501629.1:n.-52+9809A>G | |
| ENST00000676224.1:c.-49+28288A>G | ENSP00000502745.1:n.-49+28288A>G | |
| ENST00000676305.1:n.118+28288A>G | ||
| ENST00000676335.1:c.-125+9809A>G | ENSP00000502243.1:n.-125+9809A>G | |
| ENST00000676348.1:c.-48-37490A>G | ENSP00000502159.1:n.-48-37490A>G | |
| ENST00000676408.1:c.-48-37490A>G | ENSP00000502077.1:n.-48-37490A>G | |
| ENST00000676423.1:c.-48-37490A>G | ENSP00000501612.1:n.-48-37490A>G | |
| ENST00000676458.1:c.-51-37487A>G | ENSP00000501994.1:n.-51-37487A>G | |
| ENST00000338700.9:c.30+28288A>G | ENSP00000339659.5:n.30+28288A>G | |
| ENST00000437508.6:c.-48-37490A>G | ENSP00000415812.2:n.-48-37490A>G | |
| ENST00000441616.5:c.-48-37490A>G | ENSP00000400879.1:n.-48-37490A>G | |
| ENST00000479711.5:n.115+28288A>G | ||
| ENST00000494872.5:c.-52+28288A>G | ENSP00000488229.1:n.-52+28288A>G | |
| ENST00000632856.1:c.-52+9809A>G | ENSP00000487836.1:n.-52+9809A>G | |
| NM_001130067.1:c.-48-37490A>G | NP_001123539.1:n.-48-37490A>G | |
| NM_001302692.1:c.30+28288A>G | NP_001289621.1:n.30+28288A>G | |
| NM_001302693.1:c.30+28288A>G | NP_001289622.1:n.30+28288A>G | |
| NM_015271.4:c.30+28288A>G | NP_056086.2:n.30+28288A>G | |
| XM_006714157.1:c.30+28288A>G | XP_006714220.1:n.30+28288A>G | |
| XM_006714158.1:c.30+28288A>G | XP_006714221.1:n.30+28288A>G | |
| XM_006714160.1:c.-52+9809A>G | XP_006714223.1:n.-52+9809A>G | |
| XM_006714161.1:c.-49+9809A>G | XP_006714224.1:n.-49+9809A>G | |
| XM_006714162.1:c.-49+10089A>G | XP_006714225.1:n.-49+10089A>G | |
| XM_011531795.1:c.-52+10089A>G | XP_011530097.1:n.-52+10089A>G | |
| XM_011531796.1:c.-51-37487A>G | XP_011530098.1:n.-51-37487A>G | |
| XM_011531797.1:c.-52+27624A>G | XP_011530099.1:n.-52+27624A>G | |
| XM_011531798.1:c.-48-37490A>G | XP_011530100.1:n.-48-37490A>G | |
| XM_011531799.1:c.-52+9809A>G | XP_011530101.1:n.-52+9809A>G | |
| XR_939361.1:n.1296-4872T>C | ||
| NM_001351056.1:c.-48-37490A>G | NP_001337985.1:n.-48-37490A>G | |
| NM_001351057.1:c.-528+28288A>G | NP_001337986.1:n.-528+28288A>G | |
| XM_011531796.3:c.-51-37487A>G | XP_011530098.1:n.-51-37487A>G | |
| XM_017007943.1:c.30+28288A>G | XP_016863432.1:n.30+28288A>G | |
| XM_017007944.1:c.-52+9809A>G | XP_016863433.1:n.-52+9809A>G | |
| XM_017007945.1:c.-49+9809A>G | XP_016863434.1:n.-49+9809A>G | |
| XM_017007948.2:c.-51-37487A>G | XP_016863437.1:n.-51-37487A>G | |
| XM_017007949.1:c.-49+10089A>G | XP_016863438.1:n.-49+10089A>G | |
| XM_017007950.1:c.-52+10089A>G | XP_016863439.1:n.-52+10089A>G | |
| XM_017007951.1:c.-48-37490A>G | XP_016863440.1:n.-48-37490A>G | |
| XM_017007952.1:c.-48-37490A>G | XP_016863441.1:n.-48-37490A>G | |
| XM_017007955.1:c.-525+28288A>G | XP_016863444.1:n.-525+28288A>G | |
| NM_015271.5:c.30+28288A>G MANE Select | NP_056086.2:n.30+28288A>G | |
| NM_001130067.2:c.-48-37490A>G | NP_001123539.1:n.-48-37490A>G | |
| NM_001351056.2:c.-48-37490A>G | NP_001337985.1:n.-48-37490A>G | |
| NM_001351057.2:c.-528+28288A>G | NP_001337986.1:n.-528+28288A>G | |
| NM_001375488.1:c.30+28288A>G | NP_001362417.1:n.30+28288A>G | |
| NM_001375489.1:c.30+28288A>G | NP_001362418.1:n.30+28288A>G | |
| NM_001375490.1:c.30+28288A>G | NP_001362419.1:n.30+28288A>G | |
| NM_001375491.1:c.30+28288A>G | NP_001362420.1:n.30+28288A>G | |
| NM_001375512.1:c.-49+9809A>G | NP_001362441.1:n.-49+9809A>G | |
| NM_001375513.1:c.-48-37490A>G | NP_001362442.1:n.-48-37490A>G | |
| NM_001375514.1:c.-48-37490A>G | NP_001362443.1:n.-48-37490A>G | |
| NM_001375515.1:c.-51-37487A>G | NP_001362444.1:n.-51-37487A>G | |
| NM_001375516.1:c.-136-5022A>G | NP_001362445.1:n.-136-5022A>G | |
| NM_001375517.1:c.-48-37490A>G | NP_001362446.1:n.-48-37490A>G | |
| NM_001375519.1:c.30+28288A>G | NP_001362448.1:n.30+28288A>G | |
| NM_001375520.1:c.30+28288A>G | NP_001362449.1:n.30+28288A>G | |
| NM_001375522.1:c.-257+28288A>G | NP_001362451.1:n.-257+28288A>G | |
| NM_001375523.1:c.-260+28288A>G | NP_001362452.1:n.-260+28288A>G | |
| NM_001375525.1:c.-124-43045A>G | NP_001362454.1:n.-124-43045A>G | |
| NM_001302692.2:c.30+28288A>G | NP_001289621.1:n.30+28288A>G | |
| NM_001302693.2:c.30+28288A>G | NP_001289622.1:n.30+28288A>G |