Linked Data
dbSNP Id:
rs770239369
ExAC:
X:8699928 G / C
gnomAD v2:
X-8699928-G-C
gnomAD v3:
X-8731887-G-C
gnomAD v4:
X-8731887-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731887G>C , CM000685.2:g.8731887G>C | GRCh38 |
| NC_000023.10:g.8699928G>C , CM000685.1:g.8699928G>C | GRCh37 |
| NC_000023.9:g.8659928G>C | NCBI36 |
| NG_007088.1:g.5300C>G | |
| NG_007088.2:g.5300C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.150C>G MANE Select | ENSP00000262648.3:p.Ala50= | |
| ENST00000262648.7:c.150C>G | ENSP00000262648.3:p.Ala50= | |
| ENST00000619786.1:c.147C>G | ENSP00000478734.1:p.Ala49= | |
| NM_000216.2:c.150C>G | NP_000207.2:p.Ala50= | |
| XM_005274501.3:c.150C>G | XP_005274558.1:p.Ala50= | |
| NM_000216.3:c.150C>G | NP_000207.2:p.Ala50= | |
| XM_005274501.4:c.150C>G | XP_005274558.1:p.Ala50= | |
| NM_000216.4:c.150C>G MANE Select | NP_000207.2:p.Ala50= |