Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122703C>T , CM000665.2:g.49122703C>T | GRCh38 |
| NC_000003.11:g.49160136C>T , CM000665.1:g.49160136C>T | GRCh37 |
| NC_000003.10:g.49135140C>T | NCBI36 |
| NG_008094.1:g.15464G>A | |
| NG_054716.1:g.3236G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.4573+1G>A MANE Select | NP_002283.3:n.4573+1G>A |
| ENST00000305544.9:c.4573+1G>A MANE Select | ENSP00000307156.4:n.4573+1G>A |
| NM_002292.3:c.4573+1G>A | NP_002283.3:n.4573+1G>A |
| ENST00000305544.8:c.4573+1G>A | ENSP00000307156.4:n.4573+1G>A |
| ENST00000418109.5:c.4573+1G>A | ENSP00000388325.1:n.4573+1G>A |
| ENST00000469665.1:n.883G>A | |
| XM_005265127.3:c.4573+1G>A | XP_005265184.1:n.4573+1G>A |
| XM_005265127.4:c.4573+1G>A | XP_005265184.1:n.4573+1G>A |