Linked Data
dbSNP Id:
rs749354110
ExAC:
1:154543934 G / A
gnomAD v2:
1-154543934-G-A
gnomAD v3:
1-154571458-G-A
gnomAD v4:
1-154571458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571458G>A , CM000663.2:g.154571458G>A | GRCh38 |
| NC_000001.10:g.154543934G>A , CM000663.1:g.154543934G>A | GRCh37 |
| NC_000001.9:g.152810558G>A | NCBI36 |
| NG_008027.1:g.8678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.635G>A MANE Select | ENSP00000357461.3:p.Arg212His | |
| ENST00000636034.1:c.635G>A | ENSP00000489703.1:p.Arg212His | |
| ENST00000637900.1:c.641G>A | ENSP00000490474.1:p.Arg214His | |
| ENST00000368476.3:c.635G>A | ENSP00000357461.3:p.Arg212His | |
| NM_000748.2:c.635G>A | NP_000739.1:p.Arg212His | |
| XM_017000180.2:c.125G>A | XP_016855669.1:p.Arg42His | |
| XR_001736952.2:n.887G>A | ||
| NM_000748.3:c.635G>A MANE Select | NP_000739.1:p.Arg212His |