Linked Data
ClinVar Variation Id:
410918
dbSNP Id:
rs767011440
ExAC:
13:48942686 G / A
gnomAD v2:
13-48942686-G-A
gnomAD v3:
13-48368550-G-A
gnomAD v4:
13-48368550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368550G>A , CM000675.2:g.48368550G>A | GRCh38 |
| NC_000013.10:g.48942686G>A , CM000675.1:g.48942686G>A | GRCh37 |
| NC_000013.9:g.47840687G>A | NCBI36 |
| NG_009009.1:g.69804G>A , LRG_517:g.69804G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1073G>A MANE Select | ENSP00000267163.4:p.Arg358Gln | |
| ENST00000650461.1:c.1073G>A | ENSP00000497193.1:p.Arg358Gln | |
| ENST00000267163.4:c.1073G>A | ENSP00000267163.4:p.Arg358Gln | |
| NM_000321.2:c.1073G>A , LRG_517t1:c.1073G>A | NP_000312.2:p.Arg358Gln | |
| XM_011535171.1:c.812G>A | XP_011533473.1:p.Arg271Gln | |
| XM_011535171.2:c.812G>A | XP_011533473.1:p.Arg271Gln | |
| XR_002957522.1:n.122-3574C>T | ||
| NM_000321.3:c.1073G>A MANE Select | NP_000312.2:p.Arg358Gln |