Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978468C= , CM000667.2:g.149978468C= | GRCh38 |
| NC_000005.9:g.149358031C= , CM000667.1:g.149358031C= | GRCh37 |
| NC_000005.8:g.149338224C= | NCBI36 |
| NG_007147.2:g.19586C= , LRG_684:g.19586C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.1048C= | ||
| ENST00000286298.5:c.699+117C= MANE Select | ENSP00000286298.4:n.699+117C= | |
| ENST00000286298.4:c.699+117C= | ENSP00000286298.4:n.699+117C= | |
| ENST00000503336.1:c.372+117C= | ENSP00000426053.1:n.372+117C= | |
| NM_000112.3:c.699+117C= , LRG_684t1:c.699+117C= | NP_000103.2:n.699+117C= | |
| XM_017009191.2:c.699+117C= | XP_016864680.1:n.699+117C= | |
| NM_000112.4:c.699+117C= MANE Select | NP_000103.2:n.699+117C= |