Linked Data
ClinVar Variation Id:
2739234
ClinVar RCV Id:
RCV003509143
dbSNP Id:
rs761070541
ExAC:
19:35524773 A / AG
gnomAD v2:
19-35524773-A-AG
gnomAD v4:
19-35033869-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033874dup , CM000681.2:g.35033874dup | GRCh38 |
| NC_000019.9:g.35524778dup , CM000681.1:g.35524778dup | GRCh37 |
| NC_000019.8:g.40216618dup | NCBI36 |
| NG_013359.1:g.8187dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.583dup | ENSP00000396915.2:p.Glu195GlyfsTer? | |
| ENST00000262631.11:c.448+135dup MANE Select | ENSP00000262631.3:n.448+135dup | |
| ENST00000415950.4:c.583dup | ENSP00000396915.2:p.Glu195GlyfsTer? | |
| ENST00000596348.2:c.349+135dup | ENSP00000492247.1:n.349+135dup | |
| ENST00000638536.1:c.448+135dup | ENSP00000492022.1:n.448+135dup | |
| ENST00000640135.1:c.484dup | ENSP00000492655.1:p.Glu162GlyfsTer? | |
| ENST00000675741.1:c.349+135dup | ENSP00000502395.1:n.349+135dup | |
| ENST00000676410.1:c.349+135dup | ENSP00000502717.1:n.349+135dup | |
| ENST00000262631.9:c.448+135dup | ENSP00000262631.3:n.448+135dup | |
| ENST00000415950.3:c.583dup | ENSP00000396915.2:p.Glu195GlyfsTer? | |
| ENST00000595652.5:c.235+135dup | ENSP00000468848.1:n.235+135dup | |
| ENST00000596348.1:n.457+135dup | ||
| NM_001037.4:c.448+135dup | NP_001028.1:n.448+135dup | |
| NM_199037.3:c.583dup | NP_950238.1:p.Glu195GlyfsTer? | |
| XM_005259144.1:c.349+135dup | XP_005259201.1:n.349+135dup | |
| NM_001321605.1:c.349+135dup | NP_001308534.1:n.349+135dup | |
| NM_199037.4:c.583dup | NP_950238.1:p.Glu195GlyfsTer? | |
| NM_001037.5:c.448+135dup MANE Select | NP_001028.1:n.448+135dup | |
| NM_001321605.2:c.349+135dup | NP_001308534.1:n.349+135dup | |
| NM_199037.5:c.583dup | NP_950238.1:p.Glu195GlyfsTer? |