Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49128636C>T , CM000665.2:g.49128636C>T | GRCh38 |
| NC_000003.11:g.49166069C>T , CM000665.1:g.49166069C>T | GRCh37 |
| NC_000003.10:g.49141073C>T | NCBI36 |
| NG_008094.1:g.9531G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.1890+25G>A MANE Select | NP_002283.3:n.1890+25G>A |
| ENST00000305544.9:c.1890+25G>A MANE Select | ENSP00000307156.4:n.1890+25G>A |
| NM_002292.3:c.1890+25G>A | NP_002283.3:n.1890+25G>A |
| ENST00000305544.8:c.1890+25G>A | ENSP00000307156.4:n.1890+25G>A |
| ENST00000418109.5:c.1890+25G>A | ENSP00000388325.1:n.1890+25G>A |
| ENST00000483321.1:n.345G>A | |
| ENST00000488638.1:n.80+25G>A | |
| XM_005265127.3:c.1890+25G>A | XP_005265184.1:n.1890+25G>A |
| XM_005265127.4:c.1890+25G>A | XP_005265184.1:n.1890+25G>A |