Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225842C>G , CM000668.2:g.3225842C>G | GRCh38 |
| NC_000006.11:g.3226076C>G , CM000668.1:g.3226076C>G | GRCh37 |
| NC_000006.10:g.3171075C>G | NCBI36 |
| NG_016715.1:g.6893G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.278-31G>C MANE Select | ENSP00000259818.6:n.278-31G>C | |
| ENST00000680070.1:n.1208-31G>C | ||
| ENST00000681707.1:n.1105-31G>C | ||
| ENST00000681757.1:n.583-31G>C | ||
| ENST00000259818.7:c.278-31G>C | ENSP00000259818.6:n.278-31G>C | |
| ENST00000473006.1:n.395-31G>C | ||
| NM_178012.4:c.278-31G>C | NP_821080.1:n.278-31G>C | |
| XM_011514571.1:c.62-31G>C | XP_011512873.1:n.62-31G>C | |
| NM_178012.5:c.278-31G>C MANE Select | NP_821080.1:n.278-31G>C |