Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028650C>A , CM000667.2:g.135028650C>A | GRCh38 |
| NC_000005.9:g.134364340C>A , CM000667.1:g.134364340C>A | GRCh37 |
| NC_000005.8:g.134392239C>A | NCBI36 |
| NG_012114.1:g.10625G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*129G>T MANE Select | ENSP00000265340.6:n.*129G>T | |
| ENST00000265340.11:c.*129G>T | ENSP00000265340.6:n.*129G>T | |
| ENST00000506438.5:c.*129G>T | ENSP00000427542.1:n.*129G>T | |
| NM_002653.4:c.*129G>T | NP_002644.4:n.*129G>T | |
| NM_002653.5:c.*129G>T MANE Select | NP_002644.4:n.*129G>T |