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