Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028462G>T , CM000667.2:g.135028462G>T | GRCh38 |
| NC_000005.9:g.134364152G>T , CM000667.1:g.134364152G>T | GRCh37 |
| NC_000005.8:g.134392051G>T | NCBI36 |
| NG_012114.1:g.10813C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*317C>A MANE Select | ENSP00000265340.6:n.*317C>A | |
| ENST00000265340.11:c.*317C>A | ENSP00000265340.6:n.*317C>A | |
| NM_002653.4:c.*317C>A | NP_002644.4:n.*317C>A | |
| NM_002653.5:c.*317C>A MANE Select | NP_002644.4:n.*317C>A |