Linked Data
ClinVar Variation Id:
2859211
ClinVar RCV Id:
RCV003701732
dbSNP Id:
rs1556894661
gnomAD v2:
X-53459273-G-A
gnomAD v3:
X-53432325-G-A
gnomAD v4:
X-53432325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432325G>A , CM000685.2:g.53432325G>A | GRCh38 |
| NC_000023.10:g.53459273G>A , CM000685.1:g.53459273G>A | GRCh37 |
| NC_000023.9:g.53475998G>A | NCBI36 |
| NG_008153.1:g.7051C>T , LRG_450:g.7051C>T | |
| NG_033076.2:g.14471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.423C>T | ||
| ENST00000682365.1:n.1614C>T | ||
| ENST00000684251.1:n.123C>T | ||
| ENST00000684503.1:n.444C>T | ||
| ENST00000684692.1:c.279C>T | ENSP00000506792.1:p.Gly93= | |
| ENST00000168216.11:c.279C>T MANE Select | ENSP00000168216.6:p.Gly93= | |
| ENST00000168216.10:c.279C>T | ENSP00000168216.6:p.Gly93= | |
| ENST00000375298.4:c.279C>T | ENSP00000364447.4:p.Gly93= | |
| ENST00000375304.9:c.279C>T | ENSP00000364453.5:p.Gly93= | |
| ENST00000495986.1:n.411C>T | ||
| NM_001037811.2:c.279C>T , LRG_450t2:c.279C>T | NP_001032900.1:p.Gly93= | |
| NM_004493.2:c.279C>T , LRG_450t1:c.279C>T | NP_004484.1:p.Gly93= | |
| NM_004493.3:c.279C>T MANE Select | NP_004484.1:p.Gly93= |