Linked Data
ClinVar Variation Id:
161737
ClinVar RCV Id:
RCV000149273
dbSNP Id:
rs193920992
COSMIC:
COSM1178769
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110624201A>G , CM000673.2:g.110624201A>G | GRCh38 |
| NC_000011.9:g.110494925A>G , CM000673.1:g.110494925A>G | GRCh37 |
| NC_000011.8:g.110000135A>G | NCBI36 |
| NG_051657.1:g.93989T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683387.1:c.464T>C MANE Select | ENSP00000507405.1:p.Val155Ala | |
| ENST00000260283.8:c.464T>C | ENSP00000260283.4:p.Val155Ala | |
| ENST00000524756.5:c.395T>C | ENSP00000432076.1:p.Val132Ala | |
| ENST00000527598.1:c.356T>C | ENSP00000431399.1:p.Val119Ala | |
| ENST00000528829.5:c.356T>C | ENSP00000436319.1:p.Val119Ala | |
| ENST00000533353.5:c.386T>C | ENSP00000436522.1:p.Val129Ala | |
| NM_001258415.1:c.395T>C | NP_001245344.1:p.Val132Ala | |
| NM_001258416.1:c.386T>C | NP_001245345.1:p.Val129Ala | |
| NM_001258417.1:c.356T>C | NP_001245346.1:p.Val119Ala | |
| NM_001258418.1:c.356T>C | NP_001245347.1:p.Val119Ala | |
| NM_020809.3:c.464T>C | NP_065860.2:p.Val155Ala | |
| XM_006718893.2:c.464T>C | XP_006718956.1:p.Val155Ala | |
| XM_006718893.3:c.464T>C | XP_006718956.1:p.Val155Ala | |
| NM_001258415.2:c.395T>C | NP_001245344.1:p.Val132Ala | |
| NM_001258416.2:c.386T>C | NP_001245345.1:p.Val129Ala | |
| NM_001258417.2:c.356T>C | NP_001245346.1:p.Val119Ala | |
| NM_001258418.2:c.356T>C | NP_001245347.1:p.Val119Ala | |
| NM_001384657.1:c.464T>C MANE Select | NP_001371586.1:p.Val155Ala | |
| NM_020809.4:c.464T>C | NP_065860.2:p.Val155Ala |