Linked Data
ClinVar Variation Id:
161627
ClinVar RCV Id:
RCV000149163
dbSNP Id:
rs140410142
ExAC:
10:48428669 G / A
gnomAD v2:
10-48428669-G-A
gnomAD v3:
10-47310693-C-T
gnomAD v4:
10-47310693-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47310693C>T , CM000672.2:g.47310693C>T | GRCh38 |
| NC_000010.10:g.48428669G>A , CM000672.1:g.48428669G>A | GRCh37 |
| NC_000010.9:g.48048675G>A | NCBI36 |
| NG_046893.1:g.15470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580279.2:c.1217C>T MANE Select | ENSP00000464145.1:p.Ala406Val | |
| ENST00000580279.1:c.1217C>T | ENSP00000464145.1:p.Ala406Val | |
| NM_004962.3:c.1217C>T | NP_004953.1:p.Ala406Val | |
| XM_006717762.1:c.1214C>T | XP_006717825.1:p.Ala405Val | |
| NM_004962.4:c.1217C>T | NP_004953.1:p.Ala406Val | |
| NM_004962.5:c.1217C>T MANE Select | NP_004953.1:p.Ala406Val |