Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422936C>A , CM000663.2:g.119422936C>A | GRCh38 |
| NC_000001.10:g.119965559C>A , CM000663.1:g.119965559C>A | GRCh37 |
| NC_000001.9:g.119767082C>A | NCBI36 |
| NG_013349.1:g.13006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.*316C>A MANE Select | ENSP00000358424.3:n.*316C>A | |
| ENST00000369416.3:c.*316C>A | ENSP00000358424.3:n.*316C>A | |
| ENST00000543831.5:c.*316C>A | ENSP00000445122.1:n.*316C>A | |
| NM_000198.3:c.*316C>A | NP_000189.1:n.*316C>A | |
| NM_001166120.1:c.*316C>A | NP_001159592.1:n.*316C>A | |
| NM_000198.4:c.*316C>A MANE Select | NP_000189.1:n.*316C>A | |
| NM_001166120.2:c.*316C>A | NP_001159592.1:n.*316C>A |