Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125709G>C , CM000668.2:g.31125709G>C | GRCh38 |
| NC_000006.11:g.31093486G>C , CM000668.1:g.31093486G>C | GRCh37 |
| NC_000006.10:g.31201465G>C | NCBI36 |
| NG_021348.1:g.15879G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-195G>C MANE Select | ENSP00000259881.9:n.-195G>C | |
| ENST00000259881.9:c.-195G>C | ENSP00000259881.9:n.-195G>C | |
| ENST00000479581.5:n.61+10818G>C | ||
| ENST00000548049.1:n.150G>C | ||
| ENST00000550838.1:n.59-30G>C | ||
| ENST00000552747.1:n.53+10818G>C | ||
| NM_014068.2:c.-195G>C | NP_054787.2:n.-195G>C | |
| NM_014068.3:c.-195G>C MANE Select | NP_054787.2:n.-195G>C |