Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320598T>G , CM000667.2:g.159320598T>G | GRCh38 |
| NC_000005.9:g.158747606T>G , CM000667.1:g.158747606T>G | GRCh37 |
| NC_000005.8:g.158680184T>G | NCBI36 |
| NG_009618.1:g.14876A>C , LRG_71:g.14876A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002187.3:c.483-78A>C MANE Select | NP_002178.2:n.483-78A>C |
| ENST00000231228.3:c.483-78A>C MANE Select | ENSP00000231228.2:n.483-78A>C |
| NM_002187.2:c.483-78A>C , LRG_71t1:c.483-78A>C | NP_002178.2:n.483-78A>C |
| ENST00000231228.2:c.483-78A>C | ENSP00000231228.2:n.483-78A>C |
| ENST00000696750.1:c.-148-78A>C | ENSP00000512849.1:n.-148-78A>C |
| ENST00000696751.1:c.365-78A>C | ENSP00000512850.1:n.365-78A>C |
| XR_001742945.1:n.147+2T>G |