Linked Data
dbSNP Id:
rs758862718
ExAC:
X:140983060 G / C
gnomAD v2:
X-140983060-G-C
gnomAD v4:
X-141895274-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895274G>C , CM000685.2:g.141895274G>C | GRCh38 |
| NC_000023.10:g.140983060G>C , CM000685.1:g.140983060G>C | GRCh37 |
| NC_000023.9:g.140810726G>C | NCBI36 |
| NG_013272.1:g.61959G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.915G>C MANE Select | ENSP00000298296.1:p.Trp305Cys | |
| ENST00000443323.2:c.-118-1157G>C | ENSP00000438254.1:n.-118-1157G>C | |
| ENST00000483584.5:n.155G>C | ||
| ENST00000544766.5:c.-373G>C | ENSP00000440444.1:n.-373G>C | |
| NM_138702.1:c.915G>C MANE Select | NP_619647.1:p.Trp305Cys | |
| NM_177456.2:c.-373G>C | NP_803251.1:n.-373G>C | |
| XM_011531267.1:c.-296G>C | XP_011529569.1:n.-296G>C | |
| XM_011531267.3:c.-296G>C | XP_011529569.1:n.-296G>C | |
| XM_017029265.2:c.-373G>C | XP_016884754.1:n.-373G>C |