Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43936690G>C , CM000684.2:g.43936690G>C | GRCh38 |
| NC_000022.10:g.44332570G>C , CM000684.1:g.44332570G>C | GRCh37 |
| NC_000022.9:g.42663903G>C | NCBI36 |
| NG_008631.1:g.17952G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.758-361G>C MANE Select | NP_079501.2:n.758-361G>C |
| ENST00000216180.8:c.758-361G>C MANE Select | ENSP00000216180.3:n.758-361G>C |
| NM_025225.2:c.758-361G>C | NP_079501.2:n.758-361G>C |
| ENST00000216180.7:c.758-361G>C | ENSP00000216180.3:n.758-361G>C |
| ENST00000406117.6:c.*390-361G>C | ENSP00000384668.2:n.*390-361G>C |
| ENST00000423180.2:c.746-361G>C | ENSP00000397987.2:n.746-361G>C |
| ENST00000497129.1:n.143-361G>C |