Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159322188G= , CM000667.2:g.159322188G= | GRCh38 |
| NC_000005.9:g.158749196G= , CM000667.1:g.158749196G= | GRCh37 |
| NC_000005.8:g.158681774G= | NCBI36 |
| NG_009618.1:g.13286C= , LRG_71:g.13286C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-1668C= | ENSP00000512849.1:n.-148-1668C= | |
| ENST00000696751.1:c.364+866C= | ENSP00000512850.1:n.364+866C= | |
| ENST00000231228.3:c.482+206C= MANE Select | ENSP00000231228.2:n.482+206C= | |
| ENST00000231228.2:c.482+206C= | ENSP00000231228.2:n.482+206C= | |
| NM_002187.2:c.482+206C= , LRG_71t1:c.482+206C= | NP_002178.2:n.482+206C= | |
| XR_001742945.1:n.147+1592G= | ||
| NM_002187.3:c.482+206C= MANE Select | NP_002178.2:n.482+206C= |