Linked Data
ClinVar Variation Id:
382701
dbSNP Id:
rs1057521425
gnomAD v2:
1-241675391-C-A
gnomAD v4:
1-241512091-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512091C>A , CM000663.2:g.241512091C>A | GRCh38 |
| NC_000001.10:g.241675391C>A , CM000663.1:g.241675391C>A | GRCh37 |
| NC_000001.9:g.239742014C>A | NCBI36 |
| NG_012338.1:g.12664G>T , LRG_504:g.12664G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.934G>T | ||
| ENST00000682162.1:c.460G>T | ENSP00000508203.1:n.460G>T | |
| ENST00000682567.1:n.508G>T | ||
| ENST00000683521.1:c.431G>T | ENSP00000506864.1:p.Gly144Val | |
| ENST00000684483.1:c.431G>T | ENSP00000507894.1:p.Gly144Val | |
| ENST00000366560.4:c.431G>T MANE Select | ENSP00000355518.4:p.Gly144Val | |
| ENST00000366560.3:c.431G>T | ENSP00000355518.3:p.Gly144Val | |
| ENST00000497042.1:n.127G>T | ||
| NM_000143.3:c.431G>T , LRG_504t1:c.431G>T | NP_000134.2:p.Gly144Val | |
| XM_011544132.1:c.203G>T | XP_011542434.1:p.Gly68Val | |
| XM_011544132.2:c.203G>T | XP_011542434.1:p.Gly68Val | |
| NM_000143.4:c.431G>T MANE Select | NP_000134.2:p.Gly144Val |