dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.89065756A>C , CM000669.2:g.89065756A>C | GRCh38 |
| NC_000007.13:g.88695070A>C , CM000669.1:g.88695070A>C | GRCh37 |
| NC_000007.12:g.88533006A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333190.5:c.109-152399A>C MANE Select | ENSP00000329638.4:n.109-152399A>C | |
| ENST00000333190.4:c.109-152399A>C | ENSP00000329638.4:n.109-152399A>C | |
| NM_181646.3:c.109-152399A>C | NP_857597.1:n.109-152399A>C | |
| NM_181646.4:c.109-152399A>C | NP_857597.1:n.109-152399A>C | |
| NM_181646.5:c.109-152399A>C MANE Select | NP_857597.1:n.109-152399A>C |