Linked Data
ClinVar Variation Id:
11987
ClinVar RCV Id:
RCV000012767
dbSNP Id:
rs121964977
gnomAD v2:
9-6553420-G-A
gnomAD v3:
9-6553420-G-A
gnomAD v4:
9-6553420-G-A
COSMIC:
COSM754383
PubMed:
PMID:15236413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6553420G>A , CM000671.2:g.6553420G>A | GRCh38 |
| NC_000009.11:g.6553420G>A , CM000671.1:g.6553420G>A | GRCh37 |
| NC_000009.10:g.6543420G>A | NCBI36 |
| NG_016397.1:g.97273C>T , LRG_643:g.97273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2405C>T MANE Select | ENSP00000370737.4:p.Ala802Val | |
| ENST00000638233.1:n.840C>T | ||
| ENST00000638661.1:c.605C>T | ENSP00000491369.1:p.Ala202Val | |
| ENST00000638694.1:n.592C>T | ||
| ENST00000639318.1:c.605C>T | ENSP00000491932.1:p.Ala202Val | |
| ENST00000639364.1:n.2105C>T | ||
| ENST00000639443.1:n.1973C>T | ||
| ENST00000639639.1:c.107C>T | ENSP00000491312.1:p.Ala36Val | |
| ENST00000639954.1:n.2113C>T | ||
| ENST00000640505.1:n.644C>T | ||
| ENST00000321612.6:c.2405C>T | ENSP00000370737.3:p.Ala802Val | |
| NM_000170.2:c.2405C>T , LRG_643t1:c.2405C>T | NP_000161.2:p.Ala802Val | |
| NM_000170.3:c.2405C>T MANE Select | NP_000161.2:p.Ala802Val |