Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45099484T>G , CM000677.2:g.45099484T>G | GRCh38 |
| NC_000015.9:g.45391682T>G , CM000677.1:g.45391682T>G | GRCh37 |
| NC_000015.8:g.43178974T>G | NCBI36 |
| NG_009447.1:g.19678A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363711.2:c.3416-2A>C MANE Select | NP_001350640.1:n.3416-2A>C |
| ENST00000389039.11:c.3416-2A>C MANE Select | ENSP00000373691.7:n.3416-2A>C |
| NM_001363711.1:c.3416-2A>C | NP_001350640.1:n.3416-2A>C |
| NM_014080.4:c.3416-2A>C | NP_054799.4:n.3416-2A>C |
| NM_014080.5:c.3416-2A>C | NP_054799.4:n.3416-2A>C |
| ENST00000389039.10:c.3416-2A>C | ENSP00000373691.6:n.3416-2A>C |
| ENST00000558383.1:n.6188-2A>C | |
| ENST00000603300.1:c.3416-2A>C | ENSP00000475084.1:n.3416-2A>C |
| XM_005254421.2:c.3416-2A>C | XP_005254478.1:n.3416-2A>C |