Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19542503G>A , CM000681.2:g.19542503G>A | GRCh38 |
| NC_000019.9:g.19653312G>A , CM000681.1:g.19653312G>A | GRCh37 |
| NC_000019.8:g.19514312G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153221.2:c.721G>A MANE Select | NP_694953.2:p.Asp241Asn |
| ENST00000291495.5:c.721G>A MANE Select | ENSP00000291495.3:p.Asp241Asn |
| ENST00000586018.5:c.739G>A | ENSP00000467413.1:p.Asp247Asn |
| ENST00000588333.2:n.411G>A |