Linked Data
dbSNP Id:
rs1556673676
gnomAD v2:
X-115303675-C-T
gnomAD v4:
X-116172422-C-T
COSMIC:
COSM3727448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172422C>T , CM000685.2:g.116172422C>T | GRCh38 |
| NC_000023.10:g.115303675C>T , CM000685.1:g.115303675C>T | GRCh37 |
| NC_000023.9:g.115217703C>T | NCBI36 |
| NG_016326.1:g.6718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.142C>T MANE Select | ENSP00000360973.4:p.Pro48Ser | |
| ENST00000680409.1:n.610C>T | ||
| ENST00000681852.1:c.142C>T | ENSP00000505750.1:p.Pro48Ser | |
| ENST00000371906.4:c.142C>T | ENSP00000360973.4:p.Pro48Ser | |
| NM_000686.4:c.142C>T | NP_000677.2:p.Pro48Ser | |
| XM_011537533.1:c.142C>T | XP_011535835.1:p.Pro48Ser | |
| NM_000686.5:c.142C>T MANE Select | NP_000677.2:p.Pro48Ser | |
| NM_001385624.1:c.142C>T | NP_001372553.1:p.Pro48Ser |