Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993545C>G , CM000670.2:g.16993545C>G | GRCh38 |
| NC_000008.10:g.16851054C>G , CM000670.1:g.16851054C>G | GRCh37 |
| NC_000008.9:g.16895425C>G | NCBI36 |
| NG_015978.1:g.13621G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019851.3:c.391-228G>C MANE Select | NP_062825.1:n.391-228G>C |
| ENST00000180166.6:c.391-228G>C MANE Select | ENSP00000180166.5:n.391-228G>C |
| NM_019851.2:c.391-228G>C | NP_062825.1:n.391-228G>C |
| ENST00000180166.5:c.391-228G>C | ENSP00000180166.5:n.391-228G>C |
| ENST00000519941.1:c.95-228G>C |