Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124912818A>G , CM000674.2:g.124912818A>G | GRCh38 |
| NC_000012.11:g.125397364A>G , CM000674.1:g.125397364A>G | GRCh37 |
| NC_000012.10:g.123963317A>G | NCBI36 |
| NG_027722.2:g.7224T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021009.7:c.954T>C MANE Select | NP_066289.3:p.Thr318= |
| ENST00000339647.6:c.954T>C MANE Select | ENSP00000344818.5:p.Thr318= |
| NM_021009.6:c.954T>C | NP_066289.3:p.Thr318= |
| ENST00000339647.5:c.954T>C | ENSP00000344818.5:p.Thr318= |
| ENST00000536769.1:c.954T>C | ENSP00000441543.1:p.Thr318= |
| ENST00000538617.5:c.451+503T>C | ENSP00000443053.1:n.451+503T>C |
| ENST00000546120.2:c.348+606T>C | ENSP00000438394.2:n.348+606T>C |