Linked Data
ClinVar Variation Id:
509097
ClinVar RCV Id:
RCV000601087
dbSNP Id:
rs774793829
ExAC:
1:2985807 T / C
gnomAD v2:
1-2985807-T-C
gnomAD v3:
1-3069243-T-C
gnomAD v4:
1-3069243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3069243T>C , CM000663.2:g.3069243T>C | GRCh38 |
| NC_000001.10:g.2985807T>C , CM000663.1:g.2985807T>C | GRCh37 |
| NC_000001.9:g.2975667T>C | NCBI36 |
| NG_029576.1:g.5066T>C | |
| NG_029576.2:g.5066T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270722.10:c.-17T>C MANE Select | ENSP00000270722.5:n.-17T>C | |
| ENST00000270722.9:c.-17T>C | ENSP00000270722.5:n.-17T>C | |
| ENST00000378391.6:c.-17T>C | ENSP00000367643.2:n.-17T>C | |
| ENST00000511072.5:c.-17T>C | ENSP00000426975.1:n.-17T>C | |
| ENST00000514189.5:c.-17T>C | ENSP00000421400.1:n.-17T>C | |
| ENST00000607632.1:n.61T>C | ||
| NM_022114.3:c.-17T>C | NP_071397.3:n.-17T>C | |
| NM_199454.2:c.-17T>C | NP_955533.2:n.-17T>C | |
| XM_005244772.3:c.-17T>C | XP_005244829.1:n.-17T>C | |
| XM_005244773.3:c.-17T>C | XP_005244830.1:n.-17T>C | |
| XM_005244774.3:c.-17T>C | XP_005244831.1:n.-17T>C | |
| XM_006710814.2:c.-17T>C | XP_006710877.1:n.-17T>C | |
| XM_011541944.1:c.-17T>C | XP_011540246.1:n.-17T>C | |
| XM_005244772.5:c.-17T>C | XP_005244829.1:n.-17T>C | |
| XM_005244773.5:c.-17T>C | XP_005244830.1:n.-17T>C | |
| XM_005244774.5:c.-17T>C | XP_005244831.1:n.-17T>C | |
| XM_006710814.4:c.-17T>C | XP_006710877.1:n.-17T>C | |
| XM_017002050.1:c.-17T>C | XP_016857539.1:n.-17T>C | |
| NM_022114.4:c.-17T>C MANE Select | NP_071397.3:n.-17T>C | |
| NM_199454.3:c.-17T>C | NP_955533.2:n.-17T>C |