Linked Data
dbSNP Id:
rs531087608
ExAC:
10:73767937 G / A
gnomAD v2:
10-73767937-G-A
gnomAD v3:
10-72008179-G-A
gnomAD v4:
10-72008179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008179G>A , CM000672.2:g.72008179G>A | GRCh38 |
| NC_000010.10:g.73767937G>A , CM000672.1:g.73767937G>A | GRCh37 |
| NC_000010.9:g.73437943G>A | NCBI36 |
| NG_012635.1:g.48818G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1148G>A MANE Select | ENSP00000362207.4:p.Arg383His | |
| ENST00000373115.4:c.1148G>A | ENSP00000362207.4:p.Arg383His | |
| NM_004273.4:c.1148G>A | NP_004264.2:p.Arg383His | |
| XM_006718075.2:c.1148G>A | XP_006718138.1:p.Arg383His | |
| XM_011540369.1:c.1148G>A | XP_011538671.1:p.Arg383His | |
| XM_006718075.4:c.1148G>A | XP_006718138.1:p.Arg383His | |
| XM_011540369.2:c.1148G>A | XP_011538671.1:p.Arg383His | |
| NM_004273.5:c.1148G>A MANE Select | NP_004264.2:p.Arg383His |