Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154947766A>G , CM000685.2:g.154947766A>G | GRCh38 |
| NC_000023.10:g.154176041A>G , CM000685.1:g.154176041A>G | GRCh37 |
| NC_000023.9:g.153829235A>G | NCBI36 |
| NG_011403.1:g.79958T>C | |
| NG_011403.2:g.79958T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.2045T>C MANE Select | NP_000123.1:p.Val682Ala |
| ENST00000360256.9:c.2045T>C MANE Select | ENSP00000353393.4:p.Val682Ala |
| NM_000132.3:c.2045T>C | NP_000123.1:p.Val682Ala |
| ENST00000360256.8:c.2045T>C | ENSP00000353393.4:p.Val682Ala |
| ENST00000647125.1:c.*1779+6126T>C | ENSP00000496062.1:n.*1779+6126T>C |
| XM_011531126.1:c.1940T>C | XP_011529428.1:p.Val647Ala |