Linked Data
dbSNP Id:
rs753257705
ExAC:
X:18646786 G / T
gnomAD v2:
X-18646786-G-T
gnomAD v3:
X-18628666-G-T
gnomAD v4:
X-18628666-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628666G>T , CM000685.2:g.18628666G>T | GRCh38 |
| NC_000023.10:g.18646786G>T , CM000685.1:g.18646786G>T | GRCh37 |
| NC_000023.9:g.18556707G>T | NCBI36 |
| NG_008475.1:g.208062G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2792G>T MANE Select | ENSP00000485244.1:p.Gly931Val | |
| ENST00000674046.1:c.2915G>T | ENSP00000501174.1:p.Gly972Val | |
| ENST00000379989.6:c.2713+79G>T | ENSP00000369325.3:n.2713+79G>T | |
| ENST00000379996.7:c.2713+79G>T | ENSP00000369332.3:n.2713+79G>T | |
| ENST00000623535.1:c.2792G>T | ENSP00000485244.1:p.Gly931Val | |
| NM_001037343.1:c.2713+79G>T | NP_001032420.1:n.2713+79G>T | |
| NM_003159.2:c.2713+79G>T | NP_003150.1:n.2713+79G>T | |
| XM_011545569.1:c.2785+79G>T | XP_011543871.1:n.2785+79G>T | |
| XM_011545570.1:c.2704+79G>T | XP_011543872.1:n.2704+79G>T | |
| XR_950484.1:n.3088+79G>T | ||
| NM_001323289.1:c.2792G>T | NP_001310218.1:p.Gly931Val | |
| NM_001323289.2:c.2792G>T MANE Select | NP_001310218.1:p.Gly931Val | |
| NM_001037343.2:c.2713+79G>T | NP_001032420.1:n.2713+79G>T | |
| NM_003159.3:c.2713+79G>T | NP_003150.1:n.2713+79G>T |