Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173328063C>A , CM000667.2:g.173328063C>A | GRCh38 |
| NC_000005.9:g.172755066C>A , CM000667.1:g.172755066C>A | GRCh37 |
| NC_000005.8:g.172687672C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003714.3:c.131G>T MANE Select | NP_003705.1:p.Arg44Leu |
| ENST00000265087.9:c.131G>T MANE Select | ENSP00000265087.4:p.Arg44Leu |
| NM_003714.2:c.131G>T | NP_003705.1:p.Arg44Leu |
| ENST00000265087.8:c.131G>T | ENSP00000265087.4:p.Arg44Leu |
| ENST00000519511.1:n.385G>T |