Linked Data
dbSNP Id:
rs1178226829
gnomAD v2:
1-3083629-C-T
gnomAD v3:
1-3167065-C-T
gnomAD v4:
1-3167065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3167065C>T , CM000663.2:g.3167065C>T | GRCh38 |
| NC_000001.10:g.3083629C>T , CM000663.1:g.3083629C>T | GRCh37 |
| NC_000001.9:g.3073489C>T | NCBI36 |
| NG_029576.1:g.102888C>T | |
| NG_029576.2:g.102888C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270722.10:c.38-19060C>T MANE Select | ENSP00000270722.5:n.38-19060C>T | |
| ENST00000270722.9:c.38-19060C>T | ENSP00000270722.5:n.38-19060C>T | |
| ENST00000378391.6:c.38-19060C>T | ENSP00000367643.2:n.38-19060C>T | |
| ENST00000511072.5:c.38-19060C>T | ENSP00000426975.1:n.38-19060C>T | |
| ENST00000514189.5:c.38-19060C>T | ENSP00000421400.1:n.38-19060C>T | |
| ENST00000607632.1:n.115-19060C>T | ||
| NM_022114.3:c.38-19060C>T | NP_071397.3:n.38-19060C>T | |
| NM_199454.2:c.38-19060C>T | NP_955533.2:n.38-19060C>T | |
| XM_005244772.3:c.38-19060C>T | XP_005244829.1:n.38-19060C>T | |
| XM_005244773.3:c.38-19060C>T | XP_005244830.1:n.38-19060C>T | |
| XM_005244774.3:c.38-19060C>T | XP_005244831.1:n.38-19060C>T | |
| XM_006710814.2:c.38-19060C>T | XP_006710877.1:n.38-19060C>T | |
| XM_011541944.1:c.38-19060C>T | XP_011540246.1:n.38-19060C>T | |
| XR_946881.1:n.509G>A | ||
| XR_946882.1:n.509G>A | ||
| XM_005244772.5:c.38-19060C>T | XP_005244829.1:n.38-19060C>T | |
| XM_005244773.5:c.38-19060C>T | XP_005244830.1:n.38-19060C>T | |
| XM_005244774.5:c.38-19060C>T | XP_005244831.1:n.38-19060C>T | |
| XM_006710814.4:c.38-19060C>T | XP_006710877.1:n.38-19060C>T | |
| XM_017002050.1:c.38-19060C>T | XP_016857539.1:n.38-19060C>T | |
| XR_001737867.1:n.533G>A | ||
| NM_022114.4:c.38-19060C>T MANE Select | NP_071397.3:n.38-19060C>T | |
| NM_199454.3:c.38-19060C>T | NP_955533.2:n.38-19060C>T |