Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139509G>C , CM000668.2:g.31139509G>C | GRCh38 |
| NC_000006.11:g.31107286G>C , CM000668.1:g.31107286G>C | GRCh37 |
| NC_000006.10:g.31215265G>C | NCBI36 |
| NG_021348.1:g.29679G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.168-132G>C MANE Select | ENSP00000259881.9:n.168-132G>C | |
| ENST00000259881.9:c.168-132G>C | ENSP00000259881.9:n.168-132G>C | |
| ENST00000479581.5:n.62-132G>C | ||
| ENST00000481450.2:c.-22-132G>C | ENSP00000447158.1:n.-22-132G>C | |
| ENST00000547221.1:c.24-132G>C | ENSP00000449471.1:n.24-132G>C | |
| NM_014068.2:c.168-132G>C | NP_054787.2:n.168-132G>C | |
| NM_014068.3:c.168-132G>C MANE Select | NP_054787.2:n.168-132G>C |