Linked Data
ClinVar Variation Id:
13008
ClinVar RCV Id:
RCV000013882
dbSNP Id:
rs121918591
gnomAD v2:
2-89028797-C-T
gnomAD v3:
2-88729279-C-T
gnomAD v4:
2-88729279-C-T
PubMed:
PMID:14988808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88729279C>T , CM000664.2:g.88729279C>T | GRCh38 |
| NC_000002.11:g.89028797C>T , CM000664.1:g.89028797C>T | GRCh37 |
| NC_000002.10:g.88809912C>T | NCBI36 |
| NG_016710.1:g.42622C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283646.5:c.404C>T MANE Select | ENSP00000283646.3:p.Ala135Val | |
| ENST00000283646.4:c.404C>T | ENSP00000283646.3:p.Ala135Val | |
| NM_144563.2:c.404C>T | NP_653164.2:p.Ala135Val | |
| XR_939673.1:n.455C>T | ||
| NM_144563.3:c.404C>T MANE Select | NP_653164.2:p.Ala135Val |