Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37537783C>T , CM000663.2:g.37537783C>T | GRCh38 |
| NC_000001.10:g.38003384C>T , CM000663.1:g.38003384C>T | GRCh37 |
| NC_000001.9:g.37775971C>T | NCBI36 |
| NG_032170.1:g.21562G>A | |
| NG_032170.2:g.21562G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024700.4:c.1156G>A MANE Select | NP_078976.2:p.Asp386Asn |
| ENST00000296215.8:c.1156G>A MANE Select | ENSP00000296215.5:p.Asp386Asn |
| NM_024700.3:c.1156G>A | NP_078976.2:p.Asp386Asn |
| ENST00000296215.6:c.1156G>A | ENSP00000296215.5:p.Asp386Asn |
| ENST00000638725.1:n.1668G>A | |
| XM_011542160.1:c.913G>A | XP_011540462.1:p.Asp305Asn |
| XR_001737980.1:n.565-906C>T | |
| XR_947190.1:n.188-906C>T | |
| XR_947190.2:n.207-906C>T | |
| XR_947191.1:n.188-906C>T |