Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86579104A>G , CM000670.2:g.86579104A>G | GRCh38 |
| NC_000008.10:g.87591332A>G , CM000670.1:g.87591332A>G | GRCh37 |
| NC_000008.9:g.87660448A>G | NCBI36 |
| NG_016980.1:g.169572T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1928+2T>C MANE Select | NP_061971.3:n.1928+2T>C |
| ENST00000320005.6:c.1928+2T>C MANE Select | ENSP00000316605.5:n.1928+2T>C |
| NM_019098.4:c.1928+2T>C | NP_061971.3:n.1928+2T>C |
| ENST00000320005.5:c.1928+2T>C | ENSP00000316605.5:n.1928+2T>C |
| ENST00000517327.5:c.101+2T>C | ENSP00000428329.1:n.101+2T>C |
| ENST00000681546.1:n.1748+2T>C | |
| ENST00000681746.1:c.*339+2T>C | ENSP00000505959.1:n.*339+2T>C |
| XM_011517138.1:c.1514+2T>C | XP_011515440.1:n.1514+2T>C |
| XM_011517138.2:c.1514+2T>C | XP_011515440.1:n.1514+2T>C |