Linked Data
dbSNP Id:
rs763341735
ExAC:
16:89245906 G / A
gnomAD v2:
16-89245906-G-A
gnomAD v3:
16-89179498-G-A
gnomAD v4:
16-89179498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179498G>A , CM000678.2:g.89179498G>A | GRCh38 |
| NC_000016.9:g.89245906G>A , CM000678.1:g.89245906G>A | GRCh37 |
| NC_000016.8:g.87773407G>A | NCBI36 |
| NG_012055.1:g.12744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.125G>A MANE Select | ENSP00000289746.2:p.Arg42His | |
| ENST00000289746.2:c.125G>A | ENSP00000289746.2:p.Arg42His | |
| ENST00000521087.5:n.190G>A | ||
| ENST00000524089.1:n.190G>A | ||
| NM_004933.2:c.125G>A | NP_004924.1:p.Arg42His | |
| XM_011522806.1:c.125G>A | XP_011521108.1:p.Arg42His | |
| NM_004933.3:c.125G>A MANE Select | NP_004924.1:p.Arg42His |