Linked Data
dbSNP Id:
rs764871030
ExAC:
X:120182286 A / G
gnomAD v2:
X-120182286-A-G
gnomAD v3:
X-121048432-A-G
gnomAD v4:
X-121048432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048432A>G , CM000685.2:g.121048432A>G | GRCh38 |
| NC_000023.10:g.120182286A>G , CM000685.1:g.120182286A>G | GRCh37 |
| NC_000023.9:g.120009967A>G | NCBI36 |
| NG_016456.1:g.5825A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.748A>G MANE Select | ENSP00000327589.1:p.Asn250Asp | |
| ENST00000328078.2:c.748A>G | ENSP00000327589.1:p.Asn250Asp | |
| NM_012084.3:c.748A>G | NP_036216.2:p.Asn250Asp | |
| NM_012084.4:c.748A>G MANE Select | NP_036216.2:p.Asn250Asp |