Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016197C>A , CM000681.2:g.49016197C>A | GRCh38 |
| NC_000019.9:g.49519454C>A , CM000681.1:g.49519454C>A | GRCh37 |
| NC_000019.8:g.54211266C>A | NCBI36 |
| NG_011464.1:g.5894G>T | |
| NG_033041.1:g.27299C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.297G>T MANE Select | ENSP00000497294.2:p.Val99= | |
| ENST00000649284.1:n.388G>T | ||
| ENST00000221421.6:c.297G>T | ENSP00000221421.1:p.Val99= | |
| ENST00000391869.4:c.291G>T | ENSP00000375742.4:p.Val97= | |
| NM_000894.2:c.297G>T | NP_000885.1:p.Val99= | |
| XM_011526975.1:c.345G>T | XP_011525277.1:p.Val115= | |
| NM_000894.3:c.297G>T MANE Select | NP_000885.1:p.Val99= |