Linked Data
ClinVar Variation Id:
2417820
dbSNP Id:
rs545906519
ExAC:
1:119575811 C / T
gnomAD v2:
1-119575811-C-T
gnomAD v3:
1-119033188-C-T
gnomAD v4:
1-119033188-C-T
COSMIC:
COSM1232491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033188C>T , CM000663.2:g.119033188C>T | GRCh38 |
| NC_000001.10:g.119575811C>T , CM000663.1:g.119575811C>T | GRCh37 |
| NC_000001.9:g.119377334C>T | NCBI36 |
| NG_050658.1:g.112601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235521.5:c.806G>A MANE Select | ENSP00000235521.4:p.Arg269His | |
| ENST00000235521.4:c.806G>A | ENSP00000235521.4:p.Arg269His | |
| ENST00000369426.9:c.*172G>A | ENSP00000358434.5:n.*172G>A | |
| NM_015836.3:c.806G>A | NP_056651.1:p.Arg269His | |
| NM_201263.2:c.*172G>A | NP_957715.1:n.*172G>A | |
| XM_005270350.2:c.752G>A | XP_005270407.1:p.Arg251His | |
| XM_006710283.1:c.524G>A | XP_006710346.1:p.Arg175His | |
| XM_011540493.1:c.737G>A | XP_011538795.1:p.Arg246His | |
| XM_011540494.1:c.737G>A | XP_011538796.1:p.Arg246His | |
| XM_011540495.1:c.548G>A | XP_011538797.1:p.Arg183His | |
| XM_005270350.3:c.752G>A | XP_005270407.1:p.Arg251His | |
| XM_011540494.2:c.737G>A | XP_011538796.1:p.Arg246His | |
| XM_011540495.2:c.548G>A | XP_011538797.1:p.Arg183His | |
| XM_017000038.1:c.749G>A | XP_016855527.1:p.Arg250His | |
| XM_017000039.1:c.737G>A | XP_016855528.1:p.Arg246His | |
| XM_017000040.1:c.635G>A | XP_016855529.1:p.Arg212His | |
| XM_017000041.2:c.467G>A | XP_016855530.1:p.Arg156His | |
| XM_017000042.1:c.*141G>A | XP_016855531.1:n.*141G>A | |
| XM_024449826.1:c.737G>A | XP_024305594.1:p.Arg246His | |
| XM_024449860.1:c.524G>A | XP_024305628.1:p.Arg175His | |
| XM_024449871.1:c.524G>A | XP_024305639.1:p.Arg175His | |
| NM_001378226.1:c.737G>A | NP_001365155.1:p.Arg246His | |
| NM_001378227.1:c.737G>A | NP_001365156.1:p.Arg246His | |
| NM_001378228.1:c.635G>A | NP_001365157.1:p.Arg212His | |
| NM_001378229.1:c.548G>A | NP_001365158.1:p.Arg183His | |
| NM_001378230.1:c.524G>A | NP_001365159.1:p.Arg175His | |
| NM_001378231.1:c.*141G>A | NP_001365160.1:n.*141G>A | |
| NM_015836.4:c.806G>A MANE Select | NP_056651.1:p.Arg269His |