Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034527T>G , CM000670.2:g.26034527T>G | GRCh38 |
| NC_000008.10:g.25892043T>G , CM000670.1:g.25892043T>G | GRCh37 |
| NC_000008.9:g.25947960T>G | NCBI36 |
| NG_030344.1:g.15598A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520164.6:c.483-1374A>C MANE Select | ENSP00000430241.1:n.483-1374A>C | |
| ENST00000408929.7:c.39-1374A>C | ENSP00000386178.3:n.39-1374A>C | |
| ENST00000517825.1:n.802-1374A>C | ||
| ENST00000520164.5:c.483-1374A>C | ENSP00000430241.1:n.483-1374A>C | |
| NM_022659.3:c.483-1374A>C | NP_073150.2:n.483-1374A>C | |
| NM_022659.4:c.483-1374A>C MANE Select | NP_073150.2:n.483-1374A>C |