Linked Data
dbSNP Id:
rs1336854732
gnomAD v4:
12-105189995-T-TC
MyVariant Identifiers:
chr12:g.105583773_105583774insC (hg19)
chr12:g.105189995_105189996insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189998dup , CM000674.2:g.105189998dup | GRCh38 |
| NC_000012.11:g.105583776dup , CM000674.1:g.105583776dup | GRCh37 |
| NC_000012.10:g.104107906dup | NCBI36 |
| NG_030419.1:g.51235dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1401dup MANE Select | ENSP00000258530.3:p.Ser468GlufsTer9 | |
| ENST00000258530.7:c.1401dup | ENSP00000258530.3:p.Ser468GlufsTer9 | |
| ENST00000539978.6:c.1272dup | ENSP00000444472.2:p.Ser425GlufsTer9 | |
| ENST00000547439.5:c.*686dup | ENSP00000449410.1:n.*686dup | |
| ENST00000547809.5:n.1411dup | ||
| ENST00000551662.5:c.1419dup | ENSP00000446917.1:p.Ser474GlufsTer9 | |
| ENST00000552945.1:n.176dup | ||
| ENST00000553109.1:c.45dup | ENSP00000446510.1:p.Ser16GlufsTer9 | |
| NM_001251904.1:c.1419dup | NP_001238833.1:p.Ser474GlufsTer9 | |
| NM_001251905.1:c.1272dup | NP_001238834.1:p.Ser425GlufsTer9 | |
| NM_018171.3:c.1401dup | NP_060641.2:p.Ser468GlufsTer9 | |
| XM_006719472.1:c.1419dup | XP_006719535.1:p.Ser474GlufsTer9 | |
| XM_011538530.1:c.1380dup | XP_011536832.1:p.Ser461GlufsTer9 | |
| XM_011538531.1:c.1290dup | XP_011536833.1:p.Ser431GlufsTer9 | |
| XM_011538532.1:c.1290dup | XP_011536834.1:p.Ser431GlufsTer9 | |
| XM_011538530.3:c.1380dup | XP_011536832.1:p.Ser461GlufsTer9 | |
| XM_011538531.3:c.1290dup | XP_011536833.1:p.Ser431GlufsTer9 | |
| XM_011538532.3:c.1290dup | XP_011536834.1:p.Ser431GlufsTer9 | |
| XM_017019551.2:c.1362dup | XP_016875040.1:p.Ser455GlufsTer9 | |
| XM_017019552.2:c.1272dup | XP_016875041.1:p.Ser425GlufsTer9 | |
| XM_017019553.2:c.1272dup | XP_016875042.1:p.Ser425GlufsTer9 | |
| XM_017019554.1:c.1401dup | XP_016875043.1:p.Ser468GlufsTer9 | |
| XR_001748795.1:n.1581dup | ||
| XR_001748796.1:n.1563dup | ||
| NM_018171.4:c.1401dup | NP_060641.2:p.Ser468GlufsTer9 | |
| NM_018171.5:c.1401dup MANE Select | NP_060641.2:p.Ser468GlufsTer9 | |
| NM_001251904.2:c.1419dup | NP_001238833.1:p.Ser474GlufsTer9 | |
| NM_001251905.2:c.1272dup | NP_001238834.1:p.Ser425GlufsTer9 |