Linked Data
dbSNP Id:
rs1003586538
gnomAD v2:
17-38061976-T-C
gnomAD v3:
17-39905723-T-C
gnomAD v4:
17-39905723-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39905723T>C , CM000679.2:g.39905723T>C | GRCh38 |
| NC_000017.10:g.38061976T>C , CM000679.1:g.38061976T>C | GRCh37 |
| NC_000017.9:g.35315502T>C | NCBI36 |
| NG_015804.1:g.17928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418519.6:c.1027+124A>G MANE Select | ENSP00000415049.1:n.1027+124A>G | |
| ENST00000309481.11:c.988+124A>G | ENSP00000312584.7:n.988+124A>G | |
| ENST00000360317.7:c.1027+124A>G | ENSP00000353465.3:n.1027+124A>G | |
| ENST00000394175.6:c.961+124A>G | ENSP00000377729.2:n.961+124A>G | |
| ENST00000394179.5:c.988+124A>G | ENSP00000377733.2:n.988+124A>G | |
| ENST00000418519.5:c.1027+124A>G | ENSP00000415049.1:n.1027+124A>G | |
| ENST00000477054.6:n.4215+124A>G | ||
| ENST00000479136.5:n.1768+124A>G | ||
| ENST00000486560.1:n.92+124A>G | ||
| ENST00000520542.5:c.1000+124A>G | ENSP00000430157.1:n.1000+124A>G | |
| ENST00000522564.5:c.734+124A>G | ENSP00000428217.1:n.734+124A>G | |
| ENST00000523371.5:c.903+124A>G | ENSP00000429265.1:n.903+124A>G | |
| ENST00000524039.5:c.876+124A>G | ENSP00000428712.1:n.876+124A>G | |
| NM_001042471.1:c.988+124A>G | NP_001035936.1:n.988+124A>G | |
| NM_001165958.1:c.1027+124A>G | NP_001159430.1:n.1027+124A>G | |
| NM_001165959.1:c.1000+124A>G | NP_001159431.1:n.1000+124A>G | |
| NM_018530.2:c.961+124A>G | NP_061000.2:n.961+124A>G | |
| XM_011525001.1:c.1039+124A>G | XP_011523303.1:n.1039+124A>G | |
| XM_011525002.1:c.1039+124A>G | XP_011523304.1:n.1039+124A>G | |
| XM_011525003.1:c.1039+124A>G | XP_011523305.1:n.1039+124A>G | |
| XM_011525004.1:c.1039+124A>G | XP_011523306.1:n.1039+124A>G | |
| XM_011525005.1:c.1039+124A>G | XP_011523307.1:n.1039+124A>G | |
| XM_011525006.1:c.1039+124A>G | XP_011523308.1:n.1039+124A>G | |
| XM_011525007.1:c.1039+124A>G | XP_011523309.1:n.1039+124A>G | |
| XM_011525008.1:c.1039+124A>G | XP_011523310.1:n.1039+124A>G | |
| XM_011525009.1:c.1039+124A>G | XP_011523311.1:n.1039+124A>G | |
| XM_011525010.1:c.1039+124A>G | XP_011523312.1:n.1039+124A>G | |
| XM_011525011.1:c.1039+124A>G | XP_011523313.1:n.1039+124A>G | |
| XM_011525012.1:c.1039+124A>G | XP_011523314.1:n.1039+124A>G | |
| XM_011525013.1:c.1039+124A>G | XP_011523315.1:n.1039+124A>G | |
| XM_011525014.1:c.1039+124A>G | XP_011523316.1:n.1039+124A>G | |
| XM_011525015.1:c.1039+124A>G | XP_011523317.1:n.1039+124A>G | |
| XM_011525016.1:c.1027+124A>G | XP_011523318.1:n.1027+124A>G | |
| XM_011525017.1:c.1012+124A>G | XP_011523319.1:n.1012+124A>G | |
| XM_011525018.1:c.1000+124A>G | XP_011523320.1:n.1000+124A>G | |
| XM_011525019.1:c.988+124A>G | XP_011523321.1:n.988+124A>G | |
| XM_011525020.1:c.961+124A>G | XP_011523322.1:n.961+124A>G | |
| XR_934504.1:n.2600+124A>G | ||
| NM_001369402.1:c.988+124A>G | NP_001356331.1:n.988+124A>G | |
| NM_001042471.2:c.988+124A>G | NP_001035936.1:n.988+124A>G | |
| NM_001165958.2:c.1027+124A>G MANE Select | NP_001159430.1:n.1027+124A>G | |
| NM_001165959.2:c.1000+124A>G | NP_001159431.1:n.1000+124A>G | |
| NM_001369402.2:c.988+124A>G | NP_001356331.1:n.988+124A>G | |
| NM_001388420.1:c.1027+124A>G | NP_001375349.1:n.1027+124A>G | |
| NM_001388421.1:c.1000+124A>G | NP_001375350.1:n.1000+124A>G | |
| NM_001388422.1:c.988+124A>G | NP_001375351.1:n.988+124A>G | |
| NM_001388423.1:c.961+124A>G | NP_001375352.1:n.961+124A>G | |
| NM_001388424.1:c.715+124A>G | NP_001375353.1:n.715+124A>G | |
| NM_018530.3:c.961+124A>G | NP_061000.2:n.961+124A>G | |
| NR_170970.1:n.1121+124A>G | ||
| NR_170971.1:n.2222+124A>G | ||
| NR_170972.1:n.2138+124A>G | ||
| NR_170973.1:n.2333+124A>G | ||
| NR_170974.1:n.2195+124A>G |