Linked Data
ClinVar Variation Id:
465138
dbSNP Id:
rs755306871
ExAC:
X:119694200 C / A
gnomAD v2:
X-119694200-C-A
gnomAD v3:
X-120560345-C-A
gnomAD v4:
X-120560345-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120560345C>A , CM000685.2:g.120560345C>A | GRCh38 |
| NC_000023.10:g.119694200C>A , CM000685.1:g.119694200C>A | GRCh37 |
| NC_000023.9:g.119578228C>A | NCBI36 |
| NG_009388.1:g.20485G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336592.11:c.309G>T | ENSP00000338919.6:p.Gln103His | |
| ENST00000371322.11:c.294G>T MANE Select | ENSP00000360373.5:p.Gln98His | |
| ENST00000404115.8:c.294G>T | ENSP00000384109.4:p.Gln98His | |
| ENST00000673919.1:c.294G>T | ENSP00000500994.1:p.Gln98His | |
| ENST00000674137.11:c.294G>T | ENSP00000501019.6:p.Gln98His | |
| ENST00000679432.1:c.281G>T | ||
| ENST00000679927.1:c.-52G>T | ENSP00000505603.1:n.-52G>T | |
| ENST00000680165.1:n.620G>T | ||
| ENST00000680324.1:n.208G>T | ||
| ENST00000680577.1:n.455G>T | ||
| ENST00000680673.1:c.348G>T | ENSP00000505084.1:p.Gln116His | |
| ENST00000681090.1:c.294G>T | ENSP00000506288.1:p.Gln98His | |
| ENST00000681206.1:c.309G>T | ENSP00000505480.1:p.Gln103His | |
| ENST00000681253.1:c.348G>T | ENSP00000506259.1:p.Gln116His | |
| ENST00000681333.1:c.294G>T | ENSP00000505739.1:p.Gln98His | |
| ENST00000681652.1:c.348G>T | ENSP00000505176.1:p.Gln116His | |
| ENST00000336592.10:c.309G>T | ENSP00000338919.6:p.Gln103His | |
| ENST00000371322.9:c.294G>T | ENSP00000360373.5:p.Gln98His | |
| ENST00000404115.7:c.348G>T | ENSP00000384109.3:p.Gln116His | |
| ENST00000467641.1:n.451G>T | ||
| NM_001079872.1:c.294G>T | NP_001073341.1:p.Gln98His | |
| NM_003588.3:c.348G>T | NP_003579.3:p.Gln116His | |
| XM_005262481.1:c.348G>T | XP_005262538.1:p.Gln116His | |
| XM_006724784.1:c.309G>T | XP_006724847.1:p.Gln103His | |
| XM_006724785.1:c.309G>T | XP_006724848.1:p.Gln103His | |
| NM_001330624.1:c.309G>T | NP_001317553.1:p.Gln103His | |
| NM_001079872.2:c.294G>T MANE Select | NP_001073341.1:p.Gln98His | |
| NM_001330624.2:c.309G>T | NP_001317553.1:p.Gln103His | |
| NM_003588.4:c.348G>T | NP_003579.3:p.Gln116His |