Linked Data
ClinVar Variation Id:
378735
dbSNP Id:
rs200900510
ExAC:
12:6439066 C / T
gnomAD v2:
12-6439066-C-T
gnomAD v3:
12-6329900-C-T
gnomAD v4:
12-6329900-C-T
COSMIC:
COSM4147386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329900C>T , CM000674.2:g.6329900C>T | GRCh38 |
| NC_000012.11:g.6439066C>T , CM000674.1:g.6439066C>T | GRCh37 |
| NC_000012.10:g.6309327C>T | NCBI36 |
| NG_007506.1:g.17196G>A , LRG_193:g.17196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2036G>A | ||
| ENST00000437813.8:c.*396G>A | ENSP00000513672.1:n.*396G>A | |
| ENST00000440083.7:c.1154G>A | ENSP00000413224.3:p.Arg385Lys | |
| ENST00000535958.2:c.*762G>A | ENSP00000513673.1:n.*762G>A | |
| ENST00000698337.1:n.896G>A | ||
| ENST00000698338.1:n.1549G>A | ||
| ENST00000698339.1:c.*430G>A | ENSP00000513670.1:n.*430G>A | |
| ENST00000698340.1:c.*174G>A | ENSP00000513671.1:n.*174G>A | |
| ENST00000162749.7:c.935G>A MANE Select | ENSP00000162749.2:p.Arg312Lys | |
| ENST00000162749.6:c.935G>A | ENSP00000162749.2:p.Arg312Lys | |
| ENST00000534885.5:c.*412G>A | ENSP00000441803.1:n.*412G>A | |
| ENST00000536717.5:n.839G>A | ||
| ENST00000537842.5:n.373-1G>A | ||
| ENST00000540022.5:c.806G>A | ENSP00000438343.1:p.Arg269Lys | |
| ENST00000543359.5:n.347G>A | ||
| ENST00000543995.5:c.*522G>A | ENSP00000442405.1:n.*522G>A | |
| NM_001065.3:c.935G>A , LRG_193t1:c.935G>A | NP_001056.1:p.Arg312Lys | |
| NM_001346091.1:c.611G>A | NP_001333020.1:p.Arg204Lys | |
| NM_001346092.1:c.476G>A | NP_001333021.1:p.Arg159Lys | |
| NR_144351.1:n.1164G>A | ||
| NM_001065.4:c.935G>A MANE Select | NP_001056.1:p.Arg312Lys | |
| NM_001346091.2:c.611G>A | NP_001333020.1:p.Arg204Lys | |
| NM_001346092.2:c.476G>A | NP_001333021.1:p.Arg159Lys | |
| NR_144351.2:n.1123G>A |