Linked Data
ClinVar Variation Id:
392097
ClinVar RCV Id:
RCV000426459
dbSNP Id:
rs1057524355
gnomAD v4:
2-201729184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201729184C>G , CM000664.2:g.201729184C>G | GRCh38 |
| NC_000002.11:g.202593907C>G , CM000664.1:g.202593907C>G | GRCh37 |
| NC_000002.10:g.202302152C>G | NCBI36 |
| NG_008775.1:g.56989G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.2581-1G>C MANE Select | ENSP00000264276.6:n.2581-1G>C | |
| ENST00000439495.6:c.259-1G>C | ENSP00000403832.2:n.259-1G>C | |
| ENST00000482891.6:n.2923-1G>C | ||
| ENST00000494017.6:n.313-1G>C | ||
| ENST00000679409.1:c.259-1G>C | ENSP00000506531.1:n.259-1G>C | |
| ENST00000679416.1:n.2923-1G>C | ||
| ENST00000679435.1:c.2581-1G>C | ENSP00000505218.1:n.2581-1G>C | |
| ENST00000679516.1:c.2581-1G>C | ENSP00000505187.1:n.2581-1G>C | |
| ENST00000679618.1:c.2581-1G>C | ENSP00000506274.1:n.2581-1G>C | |
| ENST00000679630.1:n.2923-1G>C | ||
| ENST00000679686.1:n.2695-1G>C | ||
| ENST00000679701.1:n.2923-1G>C | ||
| ENST00000679916.1:c.2581-1G>C | ENSP00000506172.1:n.2581-1G>C | |
| ENST00000680000.1:c.2581-1G>C | ENSP00000506173.1:n.2581-1G>C | |
| ENST00000680135.1:c.*545-1G>C | ENSP00000506211.1:n.*545-1G>C | |
| ENST00000680149.1:c.2581-1G>C | ENSP00000506497.1:n.2581-1G>C | |
| ENST00000680163.1:c.2581-1G>C | ENSP00000505092.1:n.2581-1G>C | |
| ENST00000680174.1:n.2861-1G>C | ||
| ENST00000680236.1:c.2581-1G>C | ENSP00000506212.1:n.2581-1G>C | |
| ENST00000680497.1:c.2683-1G>C | ENSP00000505954.1:n.2683-1G>C | |
| ENST00000680508.1:c.2581-1G>C | ENSP00000505749.1:n.2581-1G>C | |
| ENST00000680569.1:c.*292-1G>C | ENSP00000505522.1:n.*292-1G>C | |
| ENST00000680630.1:n.3013-1G>C | ||
| ENST00000680634.1:n.21-8695G>C | ||
| ENST00000680722.1:n.380G>C | ||
| ENST00000680723.1:n.714-1G>C | ||
| ENST00000680726.1:c.2581-1G>C | ENSP00000505505.1:n.2581-1G>C | |
| ENST00000680737.1:n.2923-1G>C | ||
| ENST00000680759.1:c.2581-1G>C | ENSP00000505848.1:n.2581-1G>C | |
| ENST00000680814.1:c.2581-1G>C | ENSP00000505710.1:n.2581-1G>C | |
| ENST00000680828.1:c.*153-1G>C | ENSP00000505249.1:n.*153-1G>C | |
| ENST00000680861.1:c.2581-1G>C | ENSP00000505043.1:n.2581-1G>C | |
| ENST00000680927.1:c.2581-1G>C | ENSP00000505473.1:n.2581-1G>C | |
| ENST00000680939.1:n.2923-1G>C | ||
| ENST00000681152.1:c.2581-1G>C | ENSP00000505388.1:n.2581-1G>C | |
| ENST00000681250.1:c.1472-3730G>C | ENSP00000505684.1:n.1472-3730G>C | |
| ENST00000681256.1:c.*173-1G>C | ENSP00000505446.1:n.*173-1G>C | |
| ENST00000681279.1:n.2923-1G>C | ||
| ENST00000681303.1:c.2581-1G>C | ENSP00000505576.1:n.2581-1G>C | |
| ENST00000681307.1:n.2923-1G>C | ||
| ENST00000681461.1:n.2923-1G>C | ||
| ENST00000681495.1:c.259-1G>C | ENSP00000506085.1:n.259-1G>C | |
| ENST00000681558.1:c.259-1G>C | ENSP00000505568.1:n.259-1G>C | |
| ENST00000681619.1:c.2581-1G>C | ENSP00000505071.1:n.2581-1G>C | |
| ENST00000681716.1:c.*292-1G>C | ENSP00000505078.1:n.*292-1G>C | |
| ENST00000681758.1:n.2923-1G>C | ||
| ENST00000681768.1:c.*245-1G>C | ENSP00000506311.1:n.*245-1G>C | |
| ENST00000681808.1:c.2581-1G>C | ENSP00000505219.1:n.2581-1G>C | |
| ENST00000264276.10:c.2581-1G>C | ENSP00000264276.6:n.2581-1G>C | |
| ENST00000439495.5:c.542-1G>C | ||
| ENST00000482891.5:n.2721-1G>C | ||
| ENST00000483703.1:n.351-1G>C | ||
| ENST00000494017.5:n.179-1G>C | ||
| NM_020919.3:c.2581-1G>C | NP_065970.2:n.2581-1G>C | |
| XM_005246709.2:c.2581-1G>C | XP_005246766.1:n.2581-1G>C | |
| XM_006712654.1:c.2581-1G>C | XP_006712717.1:n.2581-1G>C | |
| XM_006712655.2:c.517-1G>C | XP_006712718.1:n.517-1G>C | |
| XM_011511530.1:c.2242-1G>C | XP_011509832.1:n.2242-1G>C | |
| XM_011511531.1:c.2581-1G>C | XP_011509833.1:n.2581-1G>C | |
| XR_922974.1:n.2716-1G>C | ||
| XM_006712654.3:c.2581-1G>C | XP_006712717.1:n.2581-1G>C | |
| XM_006712655.3:c.517-1G>C | XP_006712718.1:n.517-1G>C | |
| XM_017004569.2:c.2581-1G>C | XP_016860058.1:n.2581-1G>C | |
| XM_017004570.2:c.2581-1G>C | XP_016860059.1:n.2581-1G>C | |
| XM_017004572.2:c.199-1G>C | XP_016860061.1:n.199-1G>C | |
| XM_024453024.1:c.2242-1G>C | XP_024308792.1:n.2242-1G>C | |
| XM_024453025.1:c.517-1G>C | XP_024308793.1:n.517-1G>C | |
| XR_001738864.2:n.2716-1G>C | ||
| XR_001738865.2:n.2716-1G>C | ||
| XR_001738866.2:n.2716-1G>C | ||
| XR_001738867.2:n.2716-1G>C | ||
| XR_002959320.1:n.1772-1G>C | ||
| NM_020919.4:c.2581-1G>C MANE Select | NP_065970.2:n.2581-1G>C |