Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67979568T>C , CM000678.2:g.67979568T>C | GRCh38 |
| NC_000016.9:g.68013471T>C , CM000678.1:g.68013471T>C | GRCh37 |
| NC_000016.8:g.66570972T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001370198.1:c.414+71A>G MANE Select | NP_001357127.1:n.414+71A>G |
| ENST00000268793.6:c.414+71A>G MANE Select | ENSP00000268793.5:n.414+71A>G |
| NM_001129758.1:c.489+71A>G | NP_001123230.1:n.489+71A>G |
| NM_001129758.2:c.414+71A>G | NP_001123230.2:n.414+71A>G |
| NM_022357.3:c.489+71A>G | NP_071752.3:n.489+71A>G |
| NM_022357.4:c.489+71A>G | NP_071752.3:n.489+71A>G |
| ENST00000268793.4:c.489+71A>G | ENSP00000268793.4:n.489+71A>G |
| ENST00000574342.1:n.415+526A>G | |
| ENST00000672962.1:c.489+71A>G | ENSP00000500237.1:n.489+71A>G |