Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35843579G>T , CM000681.2:g.35843579G>T | GRCh38 |
| NC_000019.9:g.36334481G>T , CM000681.1:g.36334481G>T | GRCh37 |
| NC_000019.8:g.41026321G>T | NCBI36 |
| NG_013356.2:g.30709C>A , LRG_693:g.30709C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.2227C>A MANE Select | NP_004637.1:p.Arg743Ser |
| ENST00000378910.10:c.2227C>A MANE Select | ENSP00000368190.4:p.Arg743Ser |
| NM_004646.3:c.2227C>A , LRG_693t1:c.2227C>A | NP_004637.1:p.Arg743Ser |
| ENST00000353632.6:c.2227C>A | ENSP00000343634.5:p.Arg743Ser |
| ENST00000378910.9:c.2227C>A | ENSP00000368190.4:p.Arg743Ser |
| ENST00000585400.1:n.918C>A |