Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150989393A>C , CM000663.2:g.150989393A>C | GRCh38 |
| NC_000001.10:g.150961869A>C , CM000663.1:g.150961869A>C | GRCh37 |
| NC_000001.9:g.149228493A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368947.9:c.852+1052A>C MANE Select | ENSP00000357943.4:n.852+1052A>C | |
| ENST00000368947.8:c.852+1052A>C | ENSP00000357943.4:n.852+1052A>C | |
| NM_003568.2:c.852+1052A>C | NP_003559.2:n.852+1052A>C | |
| XM_005245539.3:c.852+1052A>C | XP_005245596.1:n.852+1052A>C | |
| XM_011510058.1:c.852+1052A>C | XP_011508360.1:n.852+1052A>C | |
| XM_011510058.3:c.852+1052A>C | XP_011508360.1:n.852+1052A>C | |
| NM_003568.3:c.852+1052A>C MANE Select | NP_003559.2:n.852+1052A>C |