Linked Data
ClinVar Variation Id:
430527
dbSNP Id:
rs398122823
ExAC:
12:14019043 T / TG
gnomAD v2:
12-14019043-T-TG
gnomAD v4:
12-13866109-T-TG
COSMIC:
COSM5513932
MyVariant Identifiers:
chr12:g.14019044dupG (hg19)
chr12:g.14019043_14019044insG (hg19)
chr12:g.13866110dupG (hg38)
chr12:g.13866109_13866110insG (hg38)
PubMed:
PMID:23160955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13866116dup , CM000674.2:g.13866116dup | GRCh38 |
| NC_000012.11:g.14019050dup , CM000674.1:g.14019050dup | GRCh37 |
| NC_000012.10:g.13910317dup | NCBI36 |
| NG_031854.1:g.118979dup | |
| NG_031854.2:g.120903dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.99dup MANE Select | ENSP00000477455.1:p.Ser34GlnfsTer25 | |
| ENST00000630791.2:c.99dup | ENSP00000486677.2:p.Ser34GlnfsTer25 | |
| ENST00000609686.3:c.99dup | ENSP00000477455.1:p.Ser34GlnfsTer25 | |
| ENST00000627535.2:c.99dup | ENSP00000486411.1:p.Ser34GlnfsTer? | |
| ENST00000630791.1:c.99dup | ENSP00000486677.1:p.Ser34GlnfsTer? | |
| NM_000834.3:c.99dup | NP_000825.2:p.Ser34GlnfsTer25 | |
| XM_011520628.1:c.99dup | XP_011518930.1:p.Ser34GlnfsTer25 | |
| XM_011520629.1:c.99dup | XP_011518931.1:p.Ser34GlnfsTer25 | |
| XM_011520630.1:c.99dup | XP_011518932.1:p.Ser34GlnfsTer25 | |
| NM_000834.4:c.99dup | NP_000825.2:p.Ser34GlnfsTer25 | |
| XM_011520628.2:c.99dup | XP_011518930.1:p.Ser34GlnfsTer25 | |
| XM_011520629.2:c.99dup | XP_011518931.1:p.Ser34GlnfsTer25 | |
| XM_017019219.2:c.99dup | XP_016874708.1:p.Ser34GlnfsTer25 | |
| NM_000834.5:c.99dup MANE Select | NP_000825.2:p.Ser34GlnfsTer25 |