Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139498C>T , CM000668.2:g.31139498C>T | GRCh38 |
| NC_000006.11:g.31107275C>T , CM000668.1:g.31107275C>T | GRCh37 |
| NC_000006.10:g.31215254C>T | NCBI36 |
| NG_021348.1:g.29668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.168-143C>T MANE Select | ENSP00000259881.9:n.168-143C>T | |
| ENST00000259881.9:c.168-143C>T | ENSP00000259881.9:n.168-143C>T | |
| ENST00000479581.5:n.62-143C>T | ||
| ENST00000481450.2:c.-22-143C>T | ENSP00000447158.1:n.-22-143C>T | |
| ENST00000547221.1:c.24-143C>T | ENSP00000449471.1:n.24-143C>T | |
| NM_014068.2:c.168-143C>T | NP_054787.2:n.168-143C>T | |
| NM_014068.3:c.168-143C>T MANE Select | NP_054787.2:n.168-143C>T |