Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980262A>C , CM000667.2:g.149980262A>C | GRCh38 |
| NC_000005.9:g.149359825A>C , CM000667.1:g.149359825A>C | GRCh37 |
| NC_000005.8:g.149340018A>C | NCBI36 |
| NG_007147.2:g.21380A>C , LRG_684:g.21380A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.700-31A>C MANE Select | ENSP00000286298.4:n.700-31A>C | |
| ENST00000286298.4:c.700-31A>C | ENSP00000286298.4:n.700-31A>C | |
| ENST00000503336.1:c.372+1911A>C | ENSP00000426053.1:n.372+1911A>C | |
| NM_000112.3:c.700-31A>C , LRG_684t1:c.700-31A>C | NP_000103.2:n.700-31A>C | |
| XM_017009191.2:c.700-31A>C | XP_016864680.1:n.700-31A>C | |
| NM_000112.4:c.700-31A>C MANE Select | NP_000103.2:n.700-31A>C |