Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016284C>T , CM000681.2:g.49016284C>T | GRCh38 |
| NC_000019.9:g.49519541C>T , CM000681.1:g.49519541C>T | GRCh37 |
| NC_000019.8:g.54211353C>T | NCBI36 |
| NG_011464.1:g.5807G>A | |
| NG_033041.1:g.27386C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.210G>A MANE Select | NP_000885.1:p.Pro70= |
| ENST00000649238.3:c.210G>A MANE Select | ENSP00000497294.2:p.Pro70= |
| NM_000894.2:c.210G>A | NP_000885.1:p.Pro70= |
| ENST00000221421.6:c.210G>A | ENSP00000221421.1:p.Pro70= |
| ENST00000391869.4:c.204G>A | ENSP00000375742.4:p.Pro68= |
| ENST00000649284.1:n.301G>A | |
| XM_011526975.1:c.258G>A | XP_011525277.1:p.Pro86= |