Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572814G>A , CM000685.2:g.47572814G>A | GRCh38 |
| NC_000023.10:g.47432213G>A , CM000685.1:g.47432213G>A | GRCh37 |
| NC_000023.9:g.47317157G>A | NCBI36 |
| NG_008437.1:g.52044C>T | |
| NG_016339.1:g.16698G>A | |
| NG_016339.2:g.16698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*50C>T MANE Select | ENSP00000295987.7:n.*50C>T | |
| ENST00000340666.5:c.*120C>T | ENSP00000343206.4:n.*120C>T | |
| ENST00000640721.1:c.218C>T | ENSP00000492857.1:n.218C>T | |
| ENST00000295987.11:c.*50C>T | ENSP00000295987.7:n.*50C>T | |
| ENST00000340666.4:c.*120C>T | ENSP00000343206.4:n.*120C>T | |
| NM_006950.3:c.*50C>T MANE Select | NP_008881.2:n.*50C>T | |
| NM_133499.2:c.*120C>T | NP_598006.1:n.*120C>T |