Linked Data
ClinVar Variation Id:
2201020
dbSNP Id:
rs778562892
ExAC:
10:50732619 T / C
gnomAD v2:
10-50732619-T-C
gnomAD v3:
10-49524573-T-C
gnomAD v4:
10-49524573-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524573T>C , CM000672.2:g.49524573T>C | GRCh38 |
| NC_000010.10:g.50732619T>C , CM000672.1:g.50732619T>C | GRCh37 |
| NC_000010.9:g.50402625T>C | NCBI36 |
| NG_009442.1:g.19529A>G , LRG_465:g.19529A>G | |
| NG_033155.1:g.4709A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.857A>G MANE Select | ENSP00000348089.5:p.Lys286Arg | |
| ENST00000447839.7:c.857A>G MANE Plus Clinical | ENSP00000387966.2:p.Lys286Arg | |
| ENST00000679596.1:c.*486A>G | ENSP00000504862.1:n.*486A>G | |
| ENST00000679811.1:n.940A>G | ||
| ENST00000680107.1:c.652+3844A>G | ENSP00000505909.1:n.652+3844A>G | |
| ENST00000680233.1:n.950A>G | ||
| ENST00000681632.1:n.935A>G | ||
| ENST00000681659.1:c.857A>G | ENSP00000505631.1:p.Lys286Arg | |
| ENST00000355832.9:c.857A>G | ENSP00000348089.5:p.Lys286Arg | |
| ENST00000447839.6:c.857A>G | ENSP00000387966.2:p.Lys286Arg | |
| ENST00000515869.1:c.857A>G | ENSP00000423550.1:p.Lys286Arg | |
| NM_000124.3:c.857A>G | NP_000115.1:p.Lys286Arg | |
| NM_001277058.1:c.857A>G | NP_001263987.1:p.Lys286Arg | |
| NM_001277059.1:c.857A>G | NP_001263988.1:p.Lys286Arg | |
| NM_001346440.1:c.857A>G | NP_001333369.1:p.Lys286Arg | |
| NM_000124.4:c.857A>G MANE Select | NP_000115.1:p.Lys286Arg | |
| NM_001277058.2:c.857A>G MANE Plus Clinical | NP_001263987.1:p.Lys286Arg | |
| NM_001277059.2:c.857A>G | NP_001263988.1:p.Lys286Arg | |
| NM_001346440.2:c.857A>G | NP_001333369.1:p.Lys286Arg |