ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209804T>C , CM000674.2:g.25209804T>C | GRCh38 |
| NC_000012.11:g.25362738T>C , CM000674.1:g.25362738T>C | GRCh37 |
| NC_000012.10:g.25254005T>C | NCBI36 |
| NG_007524.1:g.46117A>G | |
| NG_007524.2:g.46200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.219A>G | ENSP00000452512.1:p.Val73= | |
| ENST00000685328.1:c.558A>G | ENSP00000508921.1:p.Val186= | |
| ENST00000686877.1:c.*529A>G | ENSP00000510431.1:n.*529A>G | |
| ENST00000687356.1:c.*256A>G | ENSP00000510511.1:n.*256A>G | |
| ENST00000688228.1:n.1032A>G | ||
| ENST00000688940.1:c.558A>G | ENSP00000509238.1:p.Val186= | |
| ENST00000690406.1:c.361A>G | ||
| ENST00000690804.1:c.*519A>G | ENSP00000508568.1:n.*519A>G | |
| ENST00000692768.1:c.360A>G | ENSP00000510254.1:p.Val120= | |
| ENST00000693229.1:c.483A>G | ENSP00000509223.1:p.Val161= | |
| ENST00000256078.10:c.*112A>G MANE Plus Clinical | ENSP00000256078.5:n.*112A>G | |
| ENST00000311936.8:c.558A>G MANE Select | ENSP00000308495.3:p.Val186= | |
| ENST00000256078.8:c.*112A>G | ENSP00000256078.4:n.*112A>G | |
| ENST00000311936.7:c.558A>G | ENSP00000308495.3:p.Val186= | |
| ENST00000557334.5:c.219A>G | ENSP00000452512.1:p.Val73= | |
| NM_004985.4:c.558A>G | NP_004976.2:p.Val186= | |
| NM_033360.3:c.*112A>G | NP_203524.1:n.*112A>G | |
| XM_011520653.1:c.558A>G | XP_011518955.1:p.Val186= | |
| XM_011520653.3:c.558A>G | XP_011518955.1:p.Val186= | |
| NM_001369786.1:c.*112A>G | NP_001356715.1:n.*112A>G | |
| NM_001369787.1:c.558A>G | NP_001356716.1:p.Val186= | |
| NM_004985.5:c.558A>G MANE Select | NP_004976.2:p.Val186= | |
| NM_033360.4:c.*112A>G MANE Plus Clinical | NP_203524.1:n.*112A>G |