Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159322016C>A , CM000667.2:g.159322016C>A | GRCh38 |
| NC_000005.9:g.158749024C>A , CM000667.1:g.158749024C>A | GRCh37 |
| NC_000005.8:g.158681602C>A | NCBI36 |
| NG_009618.1:g.13458G>T , LRG_71:g.13458G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-148-1496G>T | ENSP00000512849.1:n.-148-1496G>T | |
| ENST00000696751.1:c.364+1038G>T | ENSP00000512850.1:n.364+1038G>T | |
| ENST00000231228.3:c.482+378G>T MANE Select | ENSP00000231228.2:n.482+378G>T | |
| ENST00000231228.2:c.482+378G>T | ENSP00000231228.2:n.482+378G>T | |
| NM_002187.2:c.482+378G>T , LRG_71t1:c.482+378G>T | NP_002178.2:n.482+378G>T | |
| XR_001742945.1:n.147+1420C>A | ||
| NM_002187.3:c.482+378G>T MANE Select | NP_002178.2:n.482+378G>T |