Linked Data
ClinVar Variation Id:
66141
ClinVar RCV Id:
RCV000056442
dbSNP Id:
rs59112368
ExAC:
12:53345546 A / G
gnomAD v2:
12-53345546-A-G
gnomAD v3:
12-52951762-A-G
gnomAD v4:
12-52951762-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52951762A>G , CM000674.2:g.52951762A>G | GRCh38 |
| NC_000012.11:g.53345546A>G , CM000674.1:g.53345546A>G | GRCh37 |
| NC_000012.10:g.51631813A>G | NCBI36 |
| NG_008351.1:g.7892A>G | |
| NG_008402.2:g.3105T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388835.4:c.854A>G MANE Select | ENSP00000373487.3:p.Gln285Arg | |
| ENST00000388835.3:c.854A>G | ENSP00000373487.3:p.Gln285Arg | |
| ENST00000388837.6:c.854A>G | ENSP00000373489.2:p.Gln285Arg | |
| ENST00000546656.1:n.267A>G | ||
| ENST00000548496.1:n.21A>G | ||
| ENST00000549078.5:n.1240A>G | ||
| ENST00000550600.5:c.854A>G | ENSP00000447278.1:p.Gln285Arg | |
| NM_000224.2:c.854A>G | NP_000215.1:p.Gln285Arg | |
| NM_199187.1:c.854A>G | NP_954657.1:p.Gln285Arg | |
| NM_000224.3:c.854A>G MANE Select | NP_000215.1:p.Gln285Arg | |
| NM_199187.2:c.854A>G | NP_954657.1:p.Gln285Arg |