Linked Data
ClinVar Variation Id:
2512965
ClinVar RCV Id:
RCV003264792
dbSNP Id:
rs762804734
ExAC:
X:140983056 C / T
gnomAD v2:
X-140983056-C-T
gnomAD v3:
X-141895270-C-T
gnomAD v4:
X-141895270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895270C>T , CM000685.2:g.141895270C>T | GRCh38 |
| NC_000023.10:g.140983056C>T , CM000685.1:g.140983056C>T | GRCh37 |
| NC_000023.9:g.140810722C>T | NCBI36 |
| NG_013272.1:g.61955C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.911C>T MANE Select | ENSP00000298296.1:p.Pro304Leu | |
| ENST00000443323.2:c.-118-1161C>T | ENSP00000438254.1:n.-118-1161C>T | |
| ENST00000483584.5:n.151C>T | ||
| ENST00000544766.5:c.-377C>T | ENSP00000440444.1:n.-377C>T | |
| NM_138702.1:c.911C>T MANE Select | NP_619647.1:p.Pro304Leu | |
| NM_177456.2:c.-377C>T | NP_803251.1:n.-377C>T | |
| XM_011531267.1:c.-300C>T | XP_011529569.1:n.-300C>T | |
| XM_011531267.3:c.-300C>T | XP_011529569.1:n.-300C>T | |
| XM_017029265.2:c.-377C>T | XP_016884754.1:n.-377C>T |