Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993369T>G , CM000670.2:g.16993369T>G | GRCh38 |
| NC_000008.10:g.16850878T>G , CM000670.1:g.16850878T>G | GRCh37 |
| NC_000008.9:g.16895249T>G | NCBI36 |
| NG_015978.1:g.13797A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019851.3:c.391-52A>C MANE Select | NP_062825.1:n.391-52A>C |
| ENST00000180166.6:c.391-52A>C MANE Select | ENSP00000180166.5:n.391-52A>C |
| NM_019851.2:c.391-52A>C | NP_062825.1:n.391-52A>C |
| ENST00000180166.5:c.391-52A>C | ENSP00000180166.5:n.391-52A>C |
| ENST00000519941.1:c.95-52A>C |