Linked Data
dbSNP Id:
rs776225509
ExAC:
19:55820016 G / A
gnomAD v2:
19-55820016-G-A
gnomAD v3:
19-55308648-G-A
gnomAD v4:
19-55308648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308648G>A , CM000681.2:g.55308648G>A | GRCh38 |
| NC_000019.9:g.55820016G>A , CM000681.1:g.55820016G>A | GRCh37 |
| NC_000019.8:g.60511828G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2099G>A MANE Select | ENSP00000310649.1:p.Arg700His | |
| ENST00000309383.5:c.2099G>A | ENSP00000310649.1:p.Arg700His | |
| ENST00000326848.7:c.1184G>A | ENSP00000320853.7:p.Arg395His | |
| ENST00000590333.5:c.2147G>A | ENSP00000468190.1:p.Arg716His | |
| NM_032430.1:c.2099G>A | NP_115806.1:p.Arg700His | |
| XM_005259327.2:c.1829G>A | XP_005259384.1:p.Arg610His | |
| XM_011527395.1:c.1856G>A | XP_011525697.1:p.Arg619His | |
| XR_430213.2:n.2082G>A | ||
| XM_005259327.3:c.1829G>A | XP_005259384.1:p.Arg610His | |
| XM_011527395.2:c.1571G>A | XP_011525697.2:p.Arg524His | |
| XM_024451739.1:c.1874G>A | XP_024307507.1:p.Arg625His | |
| XR_430213.4:n.2380G>A | ||
| NM_032430.2:c.2099G>A MANE Select | NP_115806.1:p.Arg700His |