Linked Data
ClinVar Variation Id:
458132
dbSNP Id:
rs769696726
ExAC:
13:48955503 G / T
gnomAD v2:
13-48955503-G-T
gnomAD v3:
13-48381367-G-T
gnomAD v4:
13-48381367-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381367G>T , CM000675.2:g.48381367G>T | GRCh38 |
| NC_000013.10:g.48955503G>T , CM000675.1:g.48955503G>T | GRCh37 |
| NC_000013.9:g.47853504G>T | NCBI36 |
| NG_009009.1:g.82621G>T , LRG_517:g.82621G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1619G>T MANE Select | ENSP00000267163.4:p.Gly540Val | |
| ENST00000643064.1:c.118G>T | ||
| ENST00000650461.1:c.1619G>T | ENSP00000497193.1:p.Gly540Val | |
| ENST00000267163.4:c.1619G>T | ENSP00000267163.4:p.Gly540Val | |
| NM_000321.2:c.1619G>T , LRG_517t1:c.1619G>T | NP_000312.2:p.Gly540Val | |
| XM_011535171.1:c.1358G>T | XP_011533473.1:p.Gly453Val | |
| XM_011535171.2:c.1358G>T | XP_011533473.1:p.Gly453Val | |
| NM_000321.3:c.1619G>T MANE Select | NP_000312.2:p.Gly540Val |