Linked Data
ClinVar Variation Id:
425551
ClinVar RCV Id:
RCV000488417
dbSNP Id:
rs1085307124
gnomAD v4:
1-161077459-C-T
PubMed:
PMID:24577405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161077459C>T , CM000663.2:g.161077459C>T | GRCh38 |
| NC_000001.10:g.161047249C>T , CM000663.1:g.161047249C>T | GRCh37 |
| NC_000001.9:g.159313873C>T | NCBI36 |
| NG_028109.1:g.17137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368012.4:c.724G>A MANE Select | ENSP00000356991.3:p.Val242Met | |
| ENST00000368012.3:c.724G>A | ENSP00000356991.3:p.Val242Met | |
| NM_030916.2:c.724G>A | NP_112178.2:p.Val242Met | |
| XM_005245508.2:c.724G>A | XP_005245565.1:p.Val242Met | |
| XM_011510021.1:c.724G>A | XP_011508323.1:p.Val242Met | |
| XM_011510022.1:c.724G>A | XP_011508324.1:p.Val242Met | |
| XM_011510023.1:c.724G>A | XP_011508325.1:p.Val242Met | |
| XM_005245508.3:c.724G>A | XP_005245565.1:p.Val242Met | |
| XM_011510021.2:c.724G>A | XP_011508323.1:p.Val242Met | |
| XM_011510022.2:c.724G>A | XP_011508324.1:p.Val242Met | |
| NM_030916.3:c.724G>A MANE Select | NP_112178.2:p.Val242Met |