Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304065C>A , CM000675.2:g.48304065C>A | GRCh38 |
| NC_000013.10:g.48878201C>A , CM000675.1:g.48878201C>A | GRCh37 |
| NC_000013.9:g.47776202C>A | NCBI36 |
| NG_009009.1:g.5319C>A , LRG_517:g.5319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.137+16C>A MANE Select | ENSP00000267163.4:n.137+16C>A | |
| ENST00000646097.1:c.137+16C>A | ENSP00000496556.1:n.137+16C>A | |
| ENST00000650461.1:c.137+16C>A | ENSP00000497193.1:n.137+16C>A | |
| ENST00000267163.4:c.137+16C>A | ENSP00000267163.4:n.137+16C>A | |
| ENST00000467505.5:c.137+16C>A | ENSP00000434702.1:n.137+16C>A | |
| ENST00000525036.1:n.299+16C>A | ||
| NM_000321.2:c.137+16C>A , LRG_517t1:c.137+16C>A | NP_000312.2:n.137+16C>A | |
| NM_000321.3:c.137+16C>A MANE Select | NP_000312.2:n.137+16C>A |