Linked Data
ClinVar Variation Id:
458157
dbSNP Id:
rs757275103
ExAC:
13:49051521 G / T
gnomAD v2:
13-49051521-G-T
gnomAD v4:
13-48477385-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48477385G>T , CM000675.2:g.48477385G>T | GRCh38 |
| NC_000013.10:g.49051521G>T , CM000675.1:g.49051521G>T | GRCh37 |
| NC_000013.9:g.47949522G>T | NCBI36 |
| NG_009009.1:g.178639G>T , LRG_517:g.178639G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2694G>T MANE Select | ENSP00000267163.4:p.Gln898His | |
| ENST00000643064.1:c.194+95942G>T | ||
| ENST00000650461.1:c.2694G>T | ENSP00000497193.1:p.Gln898His | |
| ENST00000267163.4:c.2694G>T | ENSP00000267163.4:p.Gln898His | |
| ENST00000484879.1:n.428G>T | ||
| ENST00000531171.5:n.297G>T | ||
| NM_000321.2:c.2694G>T , LRG_517t1:c.2694G>T | NP_000312.2:p.Gln898His | |
| XM_011535171.1:c.2433G>T | XP_011533473.1:p.Gln811His | |
| XM_011535171.2:c.2433G>T | XP_011533473.1:p.Gln811His | |
| NM_000321.3:c.2694G>T MANE Select | NP_000312.2:p.Gln898His |