Linked Data
ClinVar Variation Id:
932259
ClinVar RCV Id:
RCV001199984
dbSNP Id:
rs1231529155
gnomAD v2:
12-103246640-G-T
gnomAD v4:
12-102852862-G-T
ERepo:
CA16020859/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852862G>T , CM000674.2:g.102852862G>T | GRCh38 |
| NC_000012.11:g.103246640G>T , CM000674.1:g.103246640G>T | GRCh37 |
| NC_000012.10:g.101770770G>T | NCBI36 |
| NG_008690.1:g.69741C>A | |
| NG_008690.2:g.110549C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.795C>A MANE Select | ENSP00000448059.1:p.Cys265Ter | |
| ENST00000307000.7:c.780C>A | ENSP00000303500.2:p.Cys260Ter | |
| ENST00000549247.6:n.554C>A | ||
| ENST00000553106.5:c.795C>A | ENSP00000448059.1:p.Cys265Ter | |
| NM_000277.1:c.795C>A | NP_000268.1:p.Cys265Ter | |
| XM_011538422.1:c.795C>A | XP_011536724.1:p.Cys265Ter | |
| NM_000277.2:c.795C>A | NP_000268.1:p.Cys265Ter | |
| NM_001354304.1:c.795C>A | NP_001341233.1:p.Cys265Ter | |
| NM_000277.3:c.795C>A MANE Select | NP_000268.1:p.Cys265Ter | |
| NM_001354304.2:c.795C>A | NP_001341233.1:p.Cys265Ter |