Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94108575A>T , CM000663.2:g.94108575A>T | GRCh38 |
| NC_000001.10:g.94574131A>T , CM000663.1:g.94574131A>T | GRCh37 |
| NC_000001.9:g.94346719A>T | NCBI36 |
| NG_009073.1:g.17575T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.442+2T>A MANE Select | NP_000341.2:n.442+2T>A |
| ENST00000370225.4:c.442+2T>A MANE Select | ENSP00000359245.3:n.442+2T>A |
| NM_000350.2:c.442+2T>A | NP_000341.2:n.442+2T>A |
| ENST00000370225.3:c.442+2T>A | ENSP00000359245.3:n.442+2T>A |
| ENST00000649773.1:c.442+2T>A | ENSP00000496882.1:n.442+2T>A |