Linked Data
dbSNP Id:
rs140319105
ExAC:
X:50658862 G / A
gnomAD v2:
X-50658862-G-A
gnomAD v3:
X-50915862-G-A
gnomAD v4:
X-50915862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915862G>A , CM000685.2:g.50915862G>A | GRCh38 |
| NC_000023.10:g.50658862G>A , CM000685.1:g.50658862G>A | GRCh37 |
| NC_000023.9:g.50675602G>A | NCBI36 |
| NG_012894.1:g.10079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.434G>A MANE Select | ENSP00000252677.3:p.Arg145His | |
| ENST00000252677.3:c.434G>A | ENSP00000252677.3:p.Arg145His | |
| NM_005448.2:c.434G>A MANE Select | NP_005439.2:p.Arg145His |