Linked Data
ClinVar Variation Id:
41685
dbSNP Id:
rs148992508
ExAC:
13:48934173 G / T
gnomAD v2:
13-48934173-G-T
gnomAD v3:
13-48360037-G-T
gnomAD v4:
13-48360037-G-T
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360037G>T , CM000675.2:g.48360037G>T | GRCh38 |
| NC_000013.10:g.48934173G>T , CM000675.1:g.48934173G>T | GRCh37 |
| NC_000013.9:g.47832174G>T | NCBI36 |
| NG_009009.1:g.61291G>T , LRG_517:g.61291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.628G>T MANE Select | ENSP00000267163.4:p.Asp210Tyr | |
| ENST00000650461.1:c.628G>T | ENSP00000497193.1:p.Asp210Tyr | |
| ENST00000267163.4:c.628G>T | ENSP00000267163.4:p.Asp210Tyr | |
| ENST00000467505.5:c.158G>T | ENSP00000434702.1:p.Arg53Ile | |
| ENST00000525036.1:n.790G>T | ||
| NM_000321.2:c.628G>T , LRG_517t1:c.628G>T | NP_000312.2:p.Asp210Tyr | |
| XM_011535171.1:c.367G>T | XP_011533473.1:p.Asp123Tyr | |
| XM_011535171.2:c.367G>T | XP_011533473.1:p.Asp123Tyr | |
| NM_000321.3:c.628G>T MANE Select | NP_000312.2:p.Asp210Tyr |