Linked Data
ClinVar Variation Id:
891923
ClinVar RCV Id:
RCV001127531
dbSNP Id:
rs779224655
ExAC:
18:29099866 G / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31519903G>T , CM000680.2:g.31519903G>T | GRCh38 |
| NC_000018.9:g.29099866G>T , CM000680.1:g.29099866G>T | GRCh37 |
| NC_000018.8:g.27353864G>T | NCBI36 |
| NG_007072.3:g.26662G>T , LRG_397:g.26662G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.13G>T | ||
| ENST00000682241.2:c.182G>T | ENSP00000507600.2:p.Gly61Val | |
| ENST00000683614.2:n.13G>T | ||
| ENST00000682087.1:c.13G>T | ||
| ENST00000682241.1:c.13G>T | ||
| ENST00000683614.1:c.13G>T | ||
| ENST00000683654.1:c.182G>T | ENSP00000506971.1:p.Gly61Val | |
| ENST00000684461.1:n.13G>T | ||
| ENST00000261590.13:c.182G>T MANE Select | ENSP00000261590.8:p.Gly61Val | |
| ENST00000261590.12:c.182G>T | ENSP00000261590.8:p.Gly61Val | |
| ENST00000585206.1:c.182G>T | ENSP00000462503.1:p.Gly61Val | |
| NM_001943.3:c.182G>T , LRG_397t1:c.182G>T | NP_001934.2:p.Gly61Val | |
| NM_001943.4:c.182G>T | NP_001934.2:p.Gly61Val | |
| XM_024451095.1:c.-353G>T | XP_024306863.1:n.-353G>T | |
| NM_001943.5:c.182G>T MANE Select | NP_001934.2:p.Gly61Val |