Linked Data
ClinVar Variation Id:
42049
dbSNP Id:
rs80356678
ExAC:
18:21453158 T / TG
gnomAD v2:
18-21453158-T-TG
gnomAD v3:
18-23873194-T-TG
gnomAD v4:
18-23873194-T-TG
PubMed:
PMID:20301304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23873195dup , CM000680.2:g.23873195dup | GRCh38 |
| NC_000018.9:g.21453159dup , CM000680.1:g.21453159dup | GRCh37 |
| NC_000018.8:g.19707157dup | NCBI36 |
| NG_007853.2:g.188598dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.151dup MANE Plus Clinical | ENSP00000269217.5:p.Val51GlyfsTer4 | |
| ENST00000313654.14:c.4998+1534dup MANE Select | ENSP00000324532.8:n.4998+1534dup | |
| ENST00000649721.1:c.1890+1534dup | ENSP00000497885.1:n.1890+1534dup | |
| ENST00000269217.10:c.151dup | ENSP00000269217.5:p.Val51GlyfsTer4 | |
| ENST00000313654.13:c.4998+1534dup | ENSP00000324532.8:n.4998+1534dup | |
| ENST00000399516.7:c.4998+1534dup | ENSP00000382432.2:n.4998+1534dup | |
| ENST00000587184.5:c.151dup | ENSP00000466557.1:p.Val51GlyfsTer4 | |
| NM_000227.4:c.151dup | NP_000218.3:p.Val51GlyfsTer4 | |
| NM_001127717.2:c.4998+1534dup | NP_001121189.2:n.4998+1534dup | |
| NM_001127718.2:c.151dup | NP_001121190.2:p.Val51GlyfsTer4 | |
| NM_198129.2:c.4998+1534dup | NP_937762.2:n.4998+1534dup | |
| XM_011525978.1:c.5025+1534dup | XP_011524280.1:n.5025+1534dup | |
| XM_011525979.1:c.5016+1534dup | XP_011524281.1:n.5016+1534dup | |
| XM_011525980.1:c.5007+1534dup | XP_011524282.1:n.5007+1534dup | |
| XM_011525981.1:c.4893+1534dup | XP_011524283.1:n.4893+1534dup | |
| XM_011525982.1:c.5025+1534dup | XP_011524284.1:n.5025+1534dup | |
| XM_011525978.2:c.5025+1534dup | XP_011524280.1:n.5025+1534dup | |
| XM_011525979.2:c.5016+1534dup | XP_011524281.1:n.5016+1534dup | |
| XM_011525980.2:c.5007+1534dup | XP_011524282.1:n.5007+1534dup | |
| XM_011525981.2:c.4893+1534dup | XP_011524283.1:n.4893+1534dup | |
| XM_011525982.2:c.5025+1534dup | XP_011524284.1:n.5025+1534dup | |
| XM_017025743.1:c.2877+1534dup | XP_016881232.1:n.2877+1534dup | |
| XM_017025744.1:c.567+1534dup | XP_016881233.1:n.567+1534dup | |
| XR_001753199.1:n.5266+1534dup | ||
| NM_000227.5:c.151dup | NP_000218.3:p.Val51GlyfsTer4 | |
| NM_001127717.3:c.4998+1534dup | NP_001121189.2:n.4998+1534dup | |
| NM_001127718.3:c.151dup | NP_001121190.2:p.Val51GlyfsTer4 | |
| NM_198129.3:c.4998+1534dup | NP_937762.2:n.4998+1534dup | |
| NM_000227.6:c.151dup MANE Plus Clinical | NP_000218.3:p.Val51GlyfsTer4 | |
| NM_001127717.4:c.4998+1534dup | NP_001121189.2:n.4998+1534dup | |
| NM_001127718.4:c.151dup | NP_001121190.2:p.Val51GlyfsTer4 | |
| NM_198129.4:c.4998+1534dup MANE Select | NP_937762.2:n.4998+1534dup |