dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.41327628C>A , CM000674.2:g.41327628C>A | GRCh38 |
| NC_000012.11:g.41721430C>A , CM000674.1:g.41721430C>A | GRCh37 |
| NC_000012.10:g.40007697C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402685.7:c.843+133440C>A MANE Select | ENSP00000384197.2:n.843+133440C>A | |
| ENST00000402685.6:c.843+133440C>A | ENSP00000384197.2:n.843+133440C>A | |
| NM_001164595.1:c.843+133440C>A | NP_001158067.1:n.843+133440C>A | |
| XR_944528.1:n.1449+133440C>A | ||
| NM_001164595.2:c.843+133440C>A MANE Select | NP_001158067.1:n.843+133440C>A |