Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273587T= , CM000679.2:g.58273587T= | GRCh38 |
| NC_000017.10:g.56350948T= , CM000679.1:g.56350948T= | GRCh37 |
| NC_000017.9:g.53705947T= | NCBI36 |
| NG_009629.1:g.12349A= , LRG_84:g.12349A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.781A= | ||
| ENST00000699291.1:c.573A= | ENSP00000514272.1:p.Gln191= | |
| ENST00000699292.1:n.488A= | ||
| ENST00000225275.4:c.1448A= MANE Select | ENSP00000225275.3:p.Asn483= | |
| ENST00000225275.3:c.1448A= | ENSP00000225275.3:p.Asn483= | |
| NM_000250.1:c.1448A= , LRG_84t1:c.1448A= | NP_000241.1:p.Asn483= | |
| XM_011524821.1:c.1634A= | XP_011523123.1:p.Asn545= | |
| XM_011524822.1:c.1163A= | XP_011523124.1:p.Asn388= | |
| XM_011524823.1:c.1473A= | XP_011523125.1:p.Gln491= | |
| NM_000250.2:c.1448A= MANE Select | NP_000241.1:p.Asn483= |