Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994375T>G , CM000667.2:g.178994375T>G | GRCh38 |
| NC_000005.9:g.178421376T>G , CM000667.1:g.178421376T>G | GRCh37 |
| NC_000005.8:g.178353982T>G | NCBI36 |
| NG_008105.1:g.5749A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.504+66A>C MANE Select | NP_000834.2:n.504+66A>C |
| ENST00000517717.3:c.504+66A>C MANE Select | ENSP00000430767.1:n.504+66A>C |
| NM_000843.3:c.504+66A>C | NP_000834.2:n.504+66A>C |
| ENST00000231188.9:c.504+66A>C | ENSP00000231188.5:n.504+66A>C |
| ENST00000517717.1:c.504+66A>C | ENSP00000430767.1:n.504+66A>C |
| ENST00000650031.1:c.504+66A>C | ENSP00000497110.1:n.504+66A>C |