Linked Data
dbSNP Id:
rs781947839
ExAC:
X:154124455 C / T
gnomAD v2:
X-154124455-C-T
gnomAD v3:
X-154896180-C-T
gnomAD v4:
X-154896180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896180C>T , CM000685.2:g.154896180C>T | GRCh38 |
| NC_000023.10:g.154124455C>T , CM000685.1:g.154124455C>T | GRCh37 |
| NC_000023.9:g.153777649C>T | NCBI36 |
| NG_011403.1:g.131544G>A | |
| NG_011403.2:g.131544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6326G>A MANE Select | ENSP00000353393.4:p.Arg2109His | |
| ENST00000360256.8:c.6326G>A | ENSP00000353393.4:p.Arg2109His | |
| NM_000132.3:c.6326G>A | NP_000123.1:p.Arg2109His | |
| XM_011531126.1:c.6221G>A | XP_011529428.1:p.Arg2074His | |
| NM_000132.4:c.6326G>A MANE Select | NP_000123.1:p.Arg2109His |