Linked Data
ClinVar Variation Id:
425552
ClinVar RCV Id:
RCV000488420
dbSNP Id:
rs1085307125
PubMed:
PMID:25529316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161079848G>A , CM000663.2:g.161079848G>A | GRCh38 |
| NC_000001.10:g.161049638G>A , CM000663.1:g.161049638G>A | GRCh37 |
| NC_000001.9:g.159316262G>A | NCBI36 |
| NG_028109.1:g.14748C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368012.4:c.181C>T MANE Select | ENSP00000356991.3:p.Gln61Ter | |
| ENST00000368012.3:c.181C>T | ENSP00000356991.3:p.Gln61Ter | |
| NM_030916.2:c.181C>T | NP_112178.2:p.Gln61Ter | |
| XM_005245508.2:c.181C>T | XP_005245565.1:p.Gln61Ter | |
| XM_011510021.1:c.181C>T | XP_011508323.1:p.Gln61Ter | |
| XM_011510022.1:c.181C>T | XP_011508324.1:p.Gln61Ter | |
| XM_011510023.1:c.181C>T | XP_011508325.1:p.Gln61Ter | |
| XM_005245508.3:c.181C>T | XP_005245565.1:p.Gln61Ter | |
| XM_011510021.2:c.181C>T | XP_011508323.1:p.Gln61Ter | |
| XM_011510022.2:c.181C>T | XP_011508324.1:p.Gln61Ter | |
| NM_030916.3:c.181C>T MANE Select | NP_112178.2:p.Gln61Ter |