Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225615C>T , CM000673.2:g.5225615C>T | GRCh38 |
| NC_000011.9:g.5246845C>T , CM000673.1:g.5246845C>T | GRCh37 |
| NC_000011.8:g.5203421C>T | NCBI36 |
| NG_000007.3:g.72001G>A | |
| NG_059281.1:g.6457G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.427G>A MANE Select | NP_000509.1:p.Ala143Thr |
| ENST00000335295.4:c.427G>A MANE Select | ENSP00000333994.3:p.Ala143Thr |
| NM_000518.4:c.427G>A | NP_000509.1:p.Ala143Thr |
| ENST00000633227.1:c.*243G>A | ENSP00000488004.1:n.*243G>A |
| ENST00000647020.1:c.427G>A | ENSP00000494175.1:p.Ala143Thr |