Linked Data
dbSNP Id:
rs548742276
gnomAD v2:
2-241515702-G-A
gnomAD v3:
2-240576285-G-A
gnomAD v4:
2-240576285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576285G>A , CM000664.2:g.240576285G>A | GRCh38 |
| NC_000002.11:g.241515702G>A , CM000664.1:g.241515702G>A | GRCh37 |
| NC_000002.10:g.241164375G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1511-250G>A MANE Select | ENSP00000270357.4:n.1511-250G>A | |
| ENST00000270357.8:c.818-250G>A | ENSP00000270357.3:n.818-250G>A | |
| ENST00000437406.1:c.110-283G>A | ENSP00000403319.1:n.110-283G>A | |
| ENST00000451363.5:c.152-250G>A | ENSP00000414661.1:n.152-250G>A | |
| ENST00000464550.5:n.347-250G>A | ||
| ENST00000471657.1:n.314-250G>A | ||
| ENST00000481757.5:n.2195G>A | ||
| ENST00000486058.5:n.1624-250G>A | ||
| ENST00000493398.5:n.657-250G>A | ||
| NM_018226.4:c.1511-250G>A | NP_060696.4:n.1511-250G>A | |
| XM_005247036.3:c.1511-283G>A | XP_005247093.1:n.1511-283G>A | |
| NM_018226.5:c.1511-250G>A | NP_060696.4:n.1511-250G>A | |
| XM_005247036.4:c.1511-283G>A | XP_005247093.1:n.1511-283G>A | |
| NM_018226.6:c.1511-250G>A MANE Select | NP_060696.4:n.1511-250G>A |