Linked Data
dbSNP Id:
rs1750534345
gnomAD v4:
5-137628307-C-T
COSMIC:
COSM3783852
MyVariant Identifiers:
chr5:g.136963996C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137628307C>T , CM000667.2:g.137628307C>T | GRCh38 |
| NC_000005.9:g.136963996C>T , CM000667.1:g.136963996C>T | GRCh37 |
| NC_000005.8:g.136991895C>T | NCBI36 |
| NG_032569.1:g.112784G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309755.9:c.1581G>A MANE Select | ENSP00000312397.4:p.Arg527= | |
| ENST00000309755.8:c.1581G>A | ENSP00000312397.4:p.Arg527= | |
| ENST00000447439.6:n.1637G>A | ||
| ENST00000504208.5:c.*465G>A | ENSP00000423585.1:n.*465G>A | |
| ENST00000506491.5:c.1335G>A | ENSP00000424828.1:p.Arg445= | |
| ENST00000506873.5:n.1104G>A | ||
| ENST00000508657.5:c.1485G>A | ENSP00000422099.1:p.Arg495= | |
| ENST00000509694.1:n.374G>A | ||
| NM_001257194.1:c.1485G>A | NP_001244123.1:p.Arg495= | |
| NM_001257195.1:c.1335G>A | NP_001244124.1:p.Arg445= | |
| NM_017415.2:c.1581G>A | NP_059111.2:p.Arg527= | |
| NM_017415.3:c.1581G>A MANE Select | NP_059111.2:p.Arg527= | |
| NM_001257195.2:c.1335G>A | NP_001244124.1:p.Arg445= |