Linked Data
ClinVar Variation Id:
500000
dbSNP Id:
rs140311741
ExAC:
1:120506308 C / T
gnomAD v2:
1-120506308-C-T
gnomAD v3:
1-119963685-C-T
gnomAD v4:
1-119963685-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119963685C>T , CM000663.2:g.119963685C>T | GRCh38 |
| NC_000001.10:g.120506308C>T , CM000663.1:g.120506308C>T | GRCh37 |
| NC_000001.9:g.120307831C>T | NCBI36 |
| NG_008163.1:g.110969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1804G>A MANE Select | ENSP00000256646.2:p.Ala602Thr | |
| ENST00000640021.1:c.1024G>A | ENSP00000492223.1:n.1024G>A | |
| ENST00000256646.6:c.1804G>A | ENSP00000256646.2:p.Ala602Thr | |
| ENST00000479412.2:n.1942G>A | ||
| ENST00000579475.7:c.1687G>A | ENSP00000477065.2:p.Ala563Thr | |
| NM_001200001.1:c.1804G>A | NP_001186930.1:p.Ala602Thr | |
| NM_024408.3:c.1804G>A | NP_077719.2:p.Ala602Thr | |
| XM_005270901.2:c.1687G>A | XP_005270958.1:p.Ala563Thr | |
| XM_011541519.1:c.1792G>A | XP_011539821.1:p.Ala598Thr | |
| XM_011541520.1:c.1687G>A | XP_011539822.1:p.Ala563Thr | |
| NM_024408.4:c.1804G>A MANE Select | NP_077719.2:p.Ala602Thr | |
| NM_001200001.2:c.1804G>A | NP_001186930.1:p.Ala602Thr |