Linked Data
ClinVar Variation Id:
1624200
ClinVar RCV Id:
RCV002113822
dbSNP Id:
rs921903094
gnomAD v2:
10-112540834-C-T
gnomAD v3:
10-110781076-C-T
gnomAD v4:
10-110781076-C-T
COSMIC:
COSM465256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781076C>T , CM000672.2:g.110781076C>T | GRCh38 |
| NC_000010.10:g.112540834C>T , CM000672.1:g.112540834C>T | GRCh37 |
| NC_000010.9:g.112530824C>T | NCBI36 |
| NG_021177.1:g.141680C>T , LRG_382:g.141680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.467C>T MANE Select | ENSP00000358532.3:p.Ala156Val | |
| ENST00000369519.3:c.467C>T | ENSP00000358532.3:p.Ala156Val | |
| NM_001134363.2:c.467C>T | NP_001127835.2:p.Ala156Val | |
| XM_011539697.1:c.83C>T | XP_011537999.1:p.Ala28Val | |
| XM_017016103.2:c.302C>T | XP_016871592.1:p.Ala101Val | |
| XM_017016104.2:c.83C>T | XP_016871593.1:p.Ala28Val | |
| NM_001134363.3:c.467C>T MANE Select | NP_001127835.2:p.Ala156Val |