Linked Data
dbSNP Id:
rs139086666
ExAC:
2:241516004 G / A
gnomAD v2:
2-241516004-G-A
gnomAD v3:
2-240576587-G-A
gnomAD v4:
2-240576587-G-A
COSMIC:
COSM4092863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576587G>A , CM000664.2:g.240576587G>A | GRCh38 |
| NC_000002.11:g.241516004G>A , CM000664.1:g.241516004G>A | GRCh37 |
| NC_000002.10:g.241164677G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1563G>A MANE Select | ENSP00000270357.4:p.Pro521= | |
| ENST00000270357.8:c.870G>A | ENSP00000270357.3:p.Pro290= | |
| ENST00000437406.1:c.129G>A | ENSP00000403319.1:p.Pro43= | |
| ENST00000451363.5:c.204G>A | ENSP00000414661.1:p.Pro68= | |
| ENST00000464550.5:n.399G>A | ||
| ENST00000471657.1:n.366G>A | ||
| ENST00000481757.5:n.2497G>A | ||
| ENST00000486058.5:n.1676G>A | ||
| ENST00000493398.5:n.709G>A | ||
| NM_018226.4:c.1563G>A | NP_060696.4:p.Pro521= | |
| XM_005247036.3:c.1530G>A | XP_005247093.1:p.Pro510= | |
| NM_018226.5:c.1563G>A | NP_060696.4:p.Pro521= | |
| XM_005247036.4:c.1530G>A | XP_005247093.1:p.Pro510= | |
| NM_018226.6:c.1563G>A MANE Select | NP_060696.4:p.Pro521= |