Linked Data
dbSNP Id:
rs779558729
ExAC:
X:30326972 G / C
gnomAD v2:
X-30326972-G-C
gnomAD v4:
X-30308855-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308855G>C , CM000685.2:g.30308855G>C | GRCh38 |
| NC_000023.10:g.30326972G>C , CM000685.1:g.30326972G>C | GRCh37 |
| NC_000023.9:g.30236893G>C | NCBI36 |
| NG_009814.1:g.5524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.509C>G MANE Select | ENSP00000368253.4:p.Ala170Gly | |
| ENST00000378970.4:c.509C>G | ENSP00000368253.4:p.Ala170Gly | |
| NM_000475.4:c.509C>G | NP_000466.2:p.Ala170Gly | |
| NM_000475.5:c.509C>G MANE Select | NP_000466.2:p.Ala170Gly |