Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17123574A>G , CM000672.2:g.17123574A>G | GRCh38 |
| NC_000010.10:g.17165573A>G , CM000672.1:g.17165573A>G | GRCh37 |
| NC_000010.9:g.17205579A>G | NCBI36 |
| NG_008967.1:g.11244T>C , LRG_540:g.11244T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.489+14T>C MANE Select | NP_001072.2:n.489+14T>C |
| ENST00000377833.10:c.489+14T>C MANE Select | ENSP00000367064.4:n.489+14T>C |
| NM_001081.3:c.489+14T>C , LRG_540t1:c.489+14T>C | NP_001072.2:n.489+14T>C |
| ENST00000377823.1:c.503T>C | ENSP00000367054.1:p.Leu168Pro |
| ENST00000377833.8:c.489+14T>C | ENSP00000367064.4:n.489+14T>C |
| ENST00000433666.5:c.150+14T>C | ENSP00000415970.1:n.150+14T>C |
| XM_011519708.1:c.489+14T>C | XP_011518010.1:n.489+14T>C |
| XM_011519708.2:c.489+14T>C | XP_011518010.1:n.489+14T>C |