Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236559808C>T , CM000663.2:g.236559808C>T | GRCh38 |
| NC_000001.10:g.236723108C>T , CM000663.1:g.236723108C>T | GRCh37 |
| NC_000001.9:g.234789731C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018072.6:c.4676G>A MANE Select | NP_060542.4:p.Ser1559Asn |
| ENST00000366582.8:c.4676G>A MANE Select | ENSP00000355541.3:p.Ser1559Asn |
| NM_018072.5:c.4676G>A | NP_060542.4:p.Ser1559Asn |
| ENST00000366581.6:c.4433G>A | ENSP00000355540.2:p.Ser1478Asn |
| ENST00000366582.7:c.4676G>A | ENSP00000355541.3:p.Ser1559Asn |
| XM_011544219.1:c.4676G>A | XP_011542521.1:p.Ser1559Asn |