Linked Data
dbSNP Id:
rs777453805
ExAC:
X:30322784 T / C
gnomAD v2:
X-30322784-T-C
gnomAD v4:
X-30304667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304667T>C , CM000685.2:g.30304667T>C | GRCh38 |
| NC_000023.10:g.30322784T>C , CM000685.1:g.30322784T>C | GRCh37 |
| NC_000023.9:g.30232705T>C | NCBI36 |
| NG_009814.1:g.9712A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1325A>G MANE Select | ENSP00000368253.4:p.Asn442Ser | |
| ENST00000378970.4:c.1325A>G | ENSP00000368253.4:p.Asn442Ser | |
| NM_000475.4:c.1325A>G | NP_000466.2:p.Asn442Ser | |
| NM_000475.5:c.1325A>G MANE Select | NP_000466.2:p.Asn442Ser |