Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50055393C>T , CM000680.2:g.50055393C>T | GRCh38 |
| NC_000018.9:g.47581763C>T , CM000680.1:g.47581763C>T | GRCh37 |
| NC_000018.8:g.45835761C>T | NCBI36 |
| NG_012925.1:g.144689G>A | |
| NG_012925.2:g.144689G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080467.3:c.28-15G>A MANE Select | NP_001073936.1:n.28-15G>A |
| ENST00000285039.12:c.28-15G>A MANE Select | ENSP00000285039.6:n.28-15G>A |
| NM_001080467.2:c.28-15G>A | NP_001073936.1:n.28-15G>A |
| ENST00000285039.11:c.28-15G>A | ENSP00000285039.6:n.28-15G>A |
| ENST00000586036.1:n.378-15G>A | |
| ENST00000616031.4:c.25-15G>A | ENSP00000479038.1:n.25-15G>A |
| ENST00000697221.1:n.399-15G>A |