Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320571C>T , CM000667.2:g.159320571C>T | GRCh38 |
| NC_000005.9:g.158747579C>T , CM000667.1:g.158747579C>T | GRCh37 |
| NC_000005.8:g.158680157C>T | NCBI36 |
| NG_009618.1:g.14903G>A , LRG_71:g.14903G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.483-51G>A MANE Select | NP_002178.2:n.483-51G>A |
| ENST00000231228.3:c.483-51G>A MANE Select | ENSP00000231228.2:n.483-51G>A |
| NM_002187.2:c.483-51G>A , LRG_71t1:c.483-51G>A | NP_002178.2:n.483-51G>A |
| ENST00000231228.2:c.483-51G>A | ENSP00000231228.2:n.483-51G>A |
| ENST00000696750.1:c.-148-51G>A | ENSP00000512849.1:n.-148-51G>A |
| ENST00000696751.1:c.365-51G>A | ENSP00000512850.1:n.365-51G>A |
| XR_001742945.1:n.122C>T |