Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1841548G>T , CM000666.2:g.1841548G>T | GRCh38 |
| NC_000004.11:g.1843275G>T , CM000666.1:g.1843275G>T | GRCh37 |
| NC_000004.10:g.1813073G>T | NCBI36 |
| NG_013063.1:g.19700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.393C>A MANE Select | ENSP00000305653.2:p.Asn131Lys | |
| ENST00000302787.2:c.393C>A | ENSP00000305653.2:p.Asn131Lys | |
| ENST00000466175.5:n.398C>A | ||
| ENST00000505551.5:n.456C>A | ||
| NM_012318.2:c.393C>A | NP_036450.1:p.Asn131Lys | |
| XM_006713884.1:c.393C>A | XP_006713947.1:p.Asn131Lys | |
| NM_012318.3:c.393C>A MANE Select | NP_036450.1:p.Asn131Lys |