Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64604681C>T , CM000670.2:g.64604681C>T | GRCh38 |
| NC_000008.10:g.65517238C>T , CM000670.1:g.65517238C>T | GRCh37 |
| NC_000008.9:g.65679792C>T | NCBI36 |
| NG_008338.1:g.199111G>A | |
| NG_008338.2:g.199111G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.1233+1G>A MANE Select | NP_004811.1:n.1233+1G>A |
| ENST00000310193.4:c.1233+1G>A MANE Select | ENSP00000310721.3:n.1233+1G>A |
| NM_001324112.1:c.1233+1G>A | NP_001311041.1:n.1233+1G>A |
| NM_001324112.2:c.1233+1G>A | NP_001311041.1:n.1233+1G>A |
| NM_004820.3:c.1233+1G>A | NP_004811.1:n.1233+1G>A |
| NM_004820.4:c.1233+1G>A | NP_004811.1:n.1233+1G>A |
| ENST00000310193.3:c.1233+1G>A | ENSP00000310721.3:n.1233+1G>A |
| ENST00000523954.1:n.507+1G>A | |
| XM_017014002.1:c.1299+1G>A | XP_016869491.1:n.1299+1G>A |