Linked Data
ClinVar Variation Id:
198740
dbSNP Id:
rs150555106
ExAC:
3:136016845 G / A
gnomAD v2:
3-136016845-G-A
gnomAD v3:
3-136298003-G-A
gnomAD v4:
3-136298003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136298003G>A , CM000665.2:g.136298003G>A | GRCh38 |
| NC_000003.11:g.136016845G>A , CM000665.1:g.136016845G>A | GRCh37 |
| NC_000003.10:g.137499535G>A | NCBI36 |
| NG_008939.1:g.52679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.815G>A MANE Select | ENSP00000251654.4:p.Arg272Gln | |
| ENST00000251654.8:c.815G>A | ENSP00000251654.4:p.Arg272Gln | |
| ENST00000462637.5:c.746G>A | ENSP00000420391.1:p.Arg249Gln | |
| ENST00000466072.5:c.815G>A | ENSP00000420158.1:p.Arg272Gln | |
| ENST00000468777.5:c.908G>A | ENSP00000419129.1:p.Arg303Gln | |
| ENST00000469217.5:c.875G>A | ENSP00000419027.1:p.Arg292Gln | |
| ENST00000471595.5:c.815G>A | ENSP00000417549.1:p.Arg272Gln | |
| ENST00000473073.1:n.772G>A | ||
| ENST00000474833.5:n.440G>A | ||
| ENST00000475214.5:n.729G>A | ||
| ENST00000478469.5:c.815G>A | ENSP00000420759.1:p.Arg272Gln | |
| ENST00000482086.5:c.467G>A | ENSP00000417253.1:p.Arg156Gln | |
| ENST00000483687.5:c.758G>A | ENSP00000420639.1:p.Arg253Gln | |
| ENST00000484181.5:c.815G>A | ENSP00000417937.1:p.Arg272Gln | |
| ENST00000490504.5:c.644G>A | ENSP00000418307.1:p.Arg215Gln | |
| NM_000532.4:c.815G>A | NP_000523.2:p.Arg272Gln | |
| NM_001178014.1:c.875G>A | NP_001171485.1:p.Arg292Gln | |
| XM_011512873.1:c.815G>A | XP_011511175.1:p.Arg272Gln | |
| XM_011512873.2:c.815G>A | XP_011511175.1:p.Arg272Gln | |
| NM_000532.5:c.815G>A MANE Select | NP_000523.2:p.Arg272Gln | |
| NM_001178014.2:c.875G>A | NP_001171485.1:p.Arg292Gln |