dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119512152A>C , CM000663.2:g.119512152A>C | GRCh38 |
| NC_000001.10:g.120054775A>C , CM000663.1:g.120054775A>C | GRCh37 |
| NC_000001.9:g.119856298A>C | NCBI36 |
| NG_050909.1:g.10041A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369413.8:c.310+485A>C MANE Select | ENSP00000358421.3:n.310+485A>C | |
| ENST00000369413.7:c.310+485A>C | ENSP00000358421.3:n.310+485A>C | |
| ENST00000528909.1:c.310+485A>C | ENSP00000432268.1:n.310+485A>C | |
| NM_000862.2:c.310+485A>C | NP_000853.1:n.310+485A>C | |
| XM_011541314.1:c.316+485A>C | XP_011539616.1:n.316+485A>C | |
| NM_001328615.1:c.310+485A>C | NP_001315544.1:n.310+485A>C | |
| NM_000862.3:c.310+485A>C MANE Select | NP_000853.1:n.310+485A>C |