Linked Data
dbSNP Id:
rs1425097046
gnomAD v2:
5-136964069-A-G
gnomAD v4:
5-137628380-A-G
COSMIC:
COSM5060631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137628380A>G , CM000667.2:g.137628380A>G | GRCh38 |
| NC_000005.9:g.136964069A>G , CM000667.1:g.136964069A>G | GRCh37 |
| NC_000005.8:g.136991968A>G | NCBI36 |
| NG_032569.1:g.112711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1508T>C MANE Select | ENSP00000312397.4:p.Val503Ala | |
| ENST00000309755.8:c.1508T>C | ENSP00000312397.4:p.Val503Ala | |
| ENST00000447439.6:n.1564T>C | ||
| ENST00000504208.5:c.*392T>C | ENSP00000423585.1:n.*392T>C | |
| ENST00000506491.5:c.1262T>C | ENSP00000424828.1:p.Val421Ala | |
| ENST00000506873.5:n.1031T>C | ||
| ENST00000508657.5:c.1412T>C | ENSP00000422099.1:p.Val471Ala | |
| ENST00000509694.1:n.301T>C | ||
| NM_001257194.1:c.1412T>C | NP_001244123.1:p.Val471Ala | |
| NM_001257195.1:c.1262T>C | NP_001244124.1:p.Val421Ala | |
| NM_017415.2:c.1508T>C | NP_059111.2:p.Val503Ala | |
| NM_017415.3:c.1508T>C MANE Select | NP_059111.2:p.Val503Ala | |
| NM_001257195.2:c.1262T>C | NP_001244124.1:p.Val421Ala |