Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12884996C>T , CM000681.2:g.12884996C>T | GRCh38 |
| NC_000019.9:g.12995810C>T , CM000681.1:g.12995810C>T | GRCh37 |
| NC_000019.8:g.12856810C>T | NCBI36 |
| NG_013087.1:g.7208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.978G>A MANE Select | ENSP00000264834.3:p.Leu326= | |
| ENST00000264834.4:c.978G>A | ENSP00000264834.3:p.Leu326= | |
| NM_006563.3:c.978G>A | NP_006554.1:p.Leu326= | |
| XM_011527642.1:c.864G>A | XP_011525944.1:p.Leu288= | |
| NM_006563.4:c.978G>A | NP_006554.1:p.Leu326= | |
| XM_011527642.2:c.864G>A | XP_011525944.1:p.Leu288= | |
| NM_006563.5:c.978G>A MANE Select | NP_006554.1:p.Leu326= |