Linked Data
dbSNP Id:
rs747494556
ExAC:
2:241515988 C / T
gnomAD v2:
2-241515988-C-T
gnomAD v3:
2-240576571-C-T
gnomAD v4:
2-240576571-C-T
COSMIC:
COSM4722249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576571C>T , CM000664.2:g.240576571C>T | GRCh38 |
| NC_000002.11:g.241515988C>T , CM000664.1:g.241515988C>T | GRCh37 |
| NC_000002.10:g.241164661C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1547C>T MANE Select | ENSP00000270357.4:p.Pro516Leu | |
| ENST00000270357.8:c.854C>T | ENSP00000270357.3:p.Pro285Leu | |
| ENST00000437406.1:c.113C>T | ENSP00000403319.1:p.Pro38Leu | |
| ENST00000451363.5:c.188C>T | ENSP00000414661.1:p.Pro63Leu | |
| ENST00000464550.5:n.383C>T | ||
| ENST00000471657.1:n.350C>T | ||
| ENST00000481757.5:n.2481C>T | ||
| ENST00000486058.5:n.1660C>T | ||
| ENST00000493398.5:n.693C>T | ||
| NM_018226.4:c.1547C>T | NP_060696.4:p.Pro516Leu | |
| XM_005247036.3:c.1514C>T | XP_005247093.1:p.Pro505Leu | |
| NM_018226.5:c.1547C>T | NP_060696.4:p.Pro516Leu | |
| XM_005247036.4:c.1514C>T | XP_005247093.1:p.Pro505Leu | |
| NM_018226.6:c.1547C>T MANE Select | NP_060696.4:p.Pro516Leu |