Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279141A= , CM000679.2:g.58279141A= | GRCh38 |
| NC_000017.10:g.56356502A= , CM000679.1:g.56356502A= | GRCh37 |
| NC_000017.9:g.53711501A= | NCBI36 |
| NG_009629.1:g.6795T= , LRG_84:g.6795T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.752T= MANE Select | NP_000241.1:p.Met251= |
| ENST00000225275.4:c.752T= MANE Select | ENSP00000225275.3:p.Met251= |
| NM_000250.1:c.752T= , LRG_84t1:c.752T= | NP_000241.1:p.Met251= |
| ENST00000225275.3:c.752T= | ENSP00000225275.3:p.Met251= |
| ENST00000578493.2:n.27T= | |
| ENST00000581022.1:n.177T= | |
| ENST00000699291.1:c.38T= | ENSP00000514272.1:p.Met13= |
| XM_011524821.1:c.938T= | XP_011523123.1:p.Met313= |
| XM_011524822.1:c.467T= | XP_011523124.1:p.Met156= |
| XM_011524823.1:c.938T= | XP_011523125.1:p.Met313= |