Linked Data
dbSNP Id:
rs779274655
ExAC:
1:241675390 T / C
gnomAD v2:
1-241675390-T-C
gnomAD v4:
1-241512090-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512090T>C , CM000663.2:g.241512090T>C | GRCh38 |
| NC_000001.10:g.241675390T>C , CM000663.1:g.241675390T>C | GRCh37 |
| NC_000001.9:g.239742013T>C | NCBI36 |
| NG_012338.1:g.12665A>G , LRG_504:g.12665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.935A>G | ||
| ENST00000682162.1:c.461A>G | ENSP00000508203.1:n.461A>G | |
| ENST00000682567.1:n.509A>G | ||
| ENST00000683521.1:c.432A>G | ENSP00000506864.1:p.Gly144= | |
| ENST00000684483.1:c.432A>G | ENSP00000507894.1:p.Gly144= | |
| ENST00000366560.4:c.432A>G MANE Select | ENSP00000355518.4:p.Gly144= | |
| ENST00000366560.3:c.432A>G | ENSP00000355518.3:p.Gly144= | |
| ENST00000497042.1:n.128A>G | ||
| NM_000143.3:c.432A>G , LRG_504t1:c.432A>G | NP_000134.2:p.Gly144= | |
| XM_011544132.1:c.204A>G | XP_011542434.1:p.Gly68= | |
| XM_011544132.2:c.204A>G | XP_011542434.1:p.Gly68= | |
| NM_000143.4:c.432A>G MANE Select | NP_000134.2:p.Gly144= |