Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001279C>A , CM000674.2:g.107001279C>A | GRCh38 |
| NC_000012.11:g.107395057C>A , CM000674.1:g.107395057C>A | GRCh37 |
| NC_000012.10:g.105919187C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.684+1G>T MANE Select | ENSP00000008527.5:n.684+1G>T | |
| ENST00000008527.9:c.684+1G>T | ENSP00000008527.5:n.684+1G>T | |
| ENST00000546722.1:n.177+1G>T | ||
| ENST00000552790.5:n.1243+1G>T | ||
| NM_004075.4:c.684+1G>T | NP_004066.1:n.684+1G>T | |
| XM_011537939.1:c.600+1G>T | XP_011536241.1:n.600+1G>T | |
| XM_017018832.2:c.600+1G>T | XP_016874321.1:n.600+1G>T | |
| XM_024448844.1:c.684+1G>T | XP_024304612.1:n.684+1G>T | |
| XM_024448845.1:c.600+1G>T | XP_024304613.1:n.600+1G>T | |
| NM_004075.5:c.684+1G>T MANE Select | NP_004066.1:n.684+1G>T |