Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320597G>A , CM000667.2:g.159320597G>A | GRCh38 |
| NC_000005.9:g.158747605G>A , CM000667.1:g.158747605G>A | GRCh37 |
| NC_000005.8:g.158680183G>A | NCBI36 |
| NG_009618.1:g.14877C>T , LRG_71:g.14877C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.483-77C>T MANE Select | NP_002178.2:n.483-77C>T |
| ENST00000231228.3:c.483-77C>T MANE Select | ENSP00000231228.2:n.483-77C>T |
| NM_002187.2:c.483-77C>T , LRG_71t1:c.483-77C>T | NP_002178.2:n.483-77C>T |
| ENST00000231228.2:c.483-77C>T | ENSP00000231228.2:n.483-77C>T |
| ENST00000696750.1:c.-148-77C>T | ENSP00000512849.1:n.-148-77C>T |
| ENST00000696751.1:c.365-77C>T | ENSP00000512850.1:n.365-77C>T |
| XR_001742945.1:n.147+1G>A |