Linked Data
dbSNP Id:
rs542631667
ExAC:
1:983473 G / A
gnomAD v2:
1-983473-G-A
gnomAD v3:
1-1048093-G-A
gnomAD v4:
1-1048093-G-A
COSMIC:
COSM913637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048093G>A , CM000663.2:g.1048093G>A | GRCh38 |
| NC_000001.10:g.983473G>A , CM000663.1:g.983473G>A | GRCh37 |
| NC_000001.9:g.973336G>A | NCBI36 |
| NG_016346.1:g.32971G>A , LRG_198:g.32971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3833G>A MANE Select | ENSP00000368678.2:p.Arg1278His | |
| ENST00000651234.1:c.3518G>A | ENSP00000499046.1:p.Arg1173His | |
| ENST00000652369.1:c.3518G>A | ENSP00000498543.1:p.Arg1173His | |
| ENST00000379370.6:c.3833G>A | ENSP00000368678.2:p.Arg1278His | |
| ENST00000620552.4:c.3419G>A | ENSP00000484607.1:p.Arg1140His | |
| NM_001305275.1:c.3833G>A | NP_001292204.1:p.Arg1278His | |
| NM_198576.3:c.3833G>A | NP_940978.2:p.Arg1278His | |
| XM_005244749.2:c.3833G>A | XP_005244806.1:p.Arg1278His | |
| XM_006710635.2:c.3833G>A | XP_006710698.1:p.Arg1278His | |
| XM_011541429.1:c.3833G>A | XP_011539731.1:p.Arg1278His | |
| XM_011541430.1:c.2960G>A | XP_011539732.1:p.Arg987His | |
| XM_011541431.1:c.2099G>A | XP_011539733.1:p.Arg700His | |
| XR_946650.1:n.3900G>A | ||
| NM_001364727.1:c.3518G>A | NP_001351656.1:p.Arg1173His | |
| XM_005244749.3:c.3833G>A | XP_005244806.1:p.Arg1278His | |
| XM_011541429.2:c.3833G>A | XP_011539731.1:p.Arg1278His | |
| XR_946650.2:n.3904G>A | ||
| NM_001305275.2:c.3833G>A | NP_001292204.1:p.Arg1278His | |
| NM_198576.4:c.3833G>A MANE Select | NP_940978.2:p.Arg1278His | |
| NM_001364727.2:c.3518G>A | NP_001351656.1:p.Arg1173His |