Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128377891G>T , CM000667.2:g.128377891G>T | GRCh38 |
| NC_000005.9:g.127713584G>T , CM000667.1:g.127713584G>T | GRCh37 |
| NC_000005.8:g.127741483G>T | NCBI36 |
| NG_008750.1:g.165152C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.1724-14C>A MANE Select | ENSP00000262464.4:n.1724-14C>A | |
| ENST00000262464.8:c.1724-14C>A | ENSP00000262464.4:n.1724-14C>A | |
| ENST00000508053.5:c.1724-14C>A | ENSP00000424571.1:n.1724-14C>A | |
| ENST00000508989.5:c.1625-14C>A | ENSP00000425596.1:n.1625-14C>A | |
| ENST00000619499.4:c.1721-14C>A | ENSP00000482132.1:n.1721-14C>A | |
| NM_001999.3:c.1724-14C>A | NP_001990.2:n.1724-14C>A | |
| XM_017009228.2:c.1571-14C>A | XP_016864717.1:n.1571-14C>A | |
| NM_001999.4:c.1724-14C>A MANE Select | NP_001990.2:n.1724-14C>A |