Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520374G>A , CM000674.2:g.52520374G>A | GRCh38 |
| NC_000012.11:g.52914158G>A , CM000674.1:g.52914158G>A | GRCh37 |
| NC_000012.10:g.51200425G>A | NCBI36 |
| NG_008297.1:g.5086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-78C>T MANE Select | ENSP00000252242.4:n.-78C>T | |
| ENST00000252242.8:c.-78C>T | ENSP00000252242.4:n.-78C>T | |
| ENST00000546577.1:c.-13+23C>T | ENSP00000449651.1:n.-13+23C>T | |
| ENST00000551275.1:c.-78C>T | ENSP00000448041.1:n.-78C>T | |
| ENST00000552629.5:n.21C>T | ||
| NM_000424.3:c.-78C>T | NP_000415.2:n.-78C>T | |
| NM_000424.4:c.-78C>T MANE Select | NP_000415.2:n.-78C>T |