Linked Data
ClinVar Variation Id:
225173
ClinVar RCV Id:
RCV000210830
dbSNP Id:
rs869320699
gnomAD v3:
13-36879422-C-T
gnomAD v4:
13-36879422-C-T
PubMed:
PMID:26122142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36879422C>T , CM000675.2:g.36879422C>T | GRCh38 |
| NC_000013.10:g.37453559C>T , CM000675.1:g.37453559C>T | GRCh37 |
| NC_000013.9:g.36351559C>T | NCBI36 |
| NG_016963.1:g.45851G>A , LRG_703:g.45851G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350148.10:c.268G>A | ENSP00000239885.6:p.Val90Met | |
| ENST00000379826.5:c.268G>A MANE Select | ENSP00000369154.4:p.Val90Met | |
| ENST00000399275.7:c.268G>A | ENSP00000382216.3:p.Val90Met | |
| ENST00000350148.9:c.268G>A | ENSP00000239885.6:p.Val90Met | |
| ENST00000379826.4:c.268G>A | ENSP00000369154.4:p.Val90Met | |
| ENST00000399275.6:c.268G>A | ENSP00000382216.2:p.Val90Met | |
| NM_001127217.2:c.268G>A , LRG_703t1:c.268G>A | NP_001120689.1:p.Val90Met | |
| NM_005905.5:c.268G>A | NP_005896.1:p.Val90Met | |
| XM_005266401.2:c.268G>A | XP_005266458.1:p.Val90Met | |
| XM_005266403.2:c.268G>A | XP_005266460.1:p.Val90Met | |
| XM_005266404.2:c.268G>A | XP_005266461.1:p.Val90Met | |
| XM_006719827.2:c.268G>A | XP_006719890.1:p.Val90Met | |
| XM_011535096.1:c.268G>A | XP_011533398.1:p.Val90Met | |
| XM_005266401.3:c.268G>A | XP_005266458.1:p.Val90Met | |
| XM_005266403.3:c.268G>A | XP_005266460.1:p.Val90Met | |
| XM_005266404.3:c.268G>A | XP_005266461.1:p.Val90Met | |
| XM_006719827.3:c.268G>A | XP_006719890.1:p.Val90Met | |
| NM_001127217.3:c.268G>A MANE Select | NP_001120689.1:p.Val90Met | |
| NM_005905.6:c.268G>A | NP_005896.1:p.Val90Met | |
| NM_001378621.1:c.268G>A | NP_001365550.1:p.Val90Met |