Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980292G= , CM000667.2:g.149980292G= | GRCh38 |
| NC_000005.9:g.149359855G= , CM000667.1:g.149359855G= | GRCh37 |
| NC_000005.8:g.149340048G= | NCBI36 |
| NG_007147.2:g.21410G= , LRG_684:g.21410G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.700-1G= MANE Select | NP_000103.2:n.700-1G= |
| ENST00000286298.5:c.700-1G= MANE Select | ENSP00000286298.4:n.700-1G= |
| NM_000112.3:c.700-1G= , LRG_684t1:c.700-1G= | NP_000103.2:n.700-1G= |
| ENST00000286298.4:c.700-1G= | ENSP00000286298.4:n.700-1G= |
| ENST00000503336.1:c.372+1941G= | ENSP00000426053.1:n.372+1941G= |
| XM_017009191.2:c.700-1G= | XP_016864680.1:n.700-1G= |