Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160135837A>C , CM000663.2:g.160135837A>C | GRCh38 |
| NC_000001.10:g.160105627A>C , CM000663.1:g.160105627A>C | GRCh37 |
| NC_000001.9:g.158372251A>C | NCBI36 |
| NG_008014.1:g.25080A>C , LRG_6:g.25080A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.2285-2A>C MANE Select | NP_000693.1:n.2285-2A>C |
| ENST00000361216.8:c.2285-2A>C MANE Select | ENSP00000354490.3:n.2285-2A>C |
| NM_000702.3:c.2285-2A>C | NP_000693.1:n.2285-2A>C |
| ENST00000361216.7:c.2285-2A>C | ENSP00000354490.3:n.2285-2A>C |
| ENST00000392233.7:c.2285-2A>C | ENSP00000376066.3:n.2285-2A>C |
| ENST00000447527.1:c.1417-2A>C | |
| ENST00000472488.5:n.2388-2A>C |