Linked Data
ClinVar Variation Id:
68103
dbSNP Id:
rs137853965
ExAC:
19:11231118 T / TC
gnomAD v2:
19-11231118-T-TC
gnomAD v3:
19-11120442-T-TC
gnomAD v4:
19-11120442-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120443dup , CM000681.2:g.11120443dup | GRCh38 |
| NC_000019.9:g.11231119dup , CM000681.1:g.11231119dup | GRCh37 |
| NC_000019.8:g.11092119dup | NCBI36 |
| NG_009060.1:g.36063dup , LRG_274:g.36063dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2319dup | ENSP00000252444.6:p.Asn774GlnfsTer29 | |
| ENST00000559340.2:c.*130dup | ENSP00000453696.2:n.*130dup | |
| ENST00000560467.2:c.1941dup | ENSP00000453513.2:p.Asn648GlnfsTer29 | |
| ENST00000558518.6:c.2061dup MANE Select | ENSP00000454071.1:p.Asn688GlnfsTer29 | |
| ENST00000252444.9:c.2315dup | ||
| ENST00000455727.6:c.1557dup | ENSP00000397829.2:p.Asn520GlnfsTer29 | |
| ENST00000535915.5:c.1938dup | ENSP00000440520.1:p.Asn647GlnfsTer29 | |
| ENST00000545707.5:c.1606+210dup | ENSP00000437639.1:n.1606+210dup | |
| ENST00000557933.5:c.2061dup | ENSP00000453557.1:p.Asn688GlnfsTer29 | |
| ENST00000558013.5:c.2061dup | ENSP00000453346.1:p.Asn688GlnfsTer29 | |
| ENST00000558518.5:c.2061dup | ENSP00000454071.1:p.Asn688GlnfsTer29 | |
| NM_000527.4:c.2061dup , LRG_274t1:c.2061dup | NP_000518.1:p.Asn688GlnfsTer29 | |
| NM_001195798.1:c.2061dup | NP_001182727.1:p.Asn688GlnfsTer29 | |
| NM_001195799.1:c.1938dup | NP_001182728.1:p.Asn647GlnfsTer29 | |
| NM_001195800.1:c.1557dup | NP_001182729.1:p.Asn520GlnfsTer29 | |
| NM_001195803.1:c.1606+210dup | NP_001182732.1:n.1606+210dup | |
| XM_011528010.1:c.2061dup | XP_011526312.1:p.Asn688GlnfsTer29 | |
| XM_011528011.1:c.1680dup | XP_011526313.1:p.Asn561GlnfsTer29 | |
| XR_244074.2:n.2071dup | ||
| XM_011528010.2:c.2061dup | XP_011526312.1:p.Asn688GlnfsTer29 | |
| XR_001753685.2:n.2178dup | ||
| XR_001753686.2:n.2038dup | ||
| NM_000527.5:c.2061dup MANE Select | NP_000518.1:p.Asn688GlnfsTer29 | |
| NM_001195798.2:c.2061dup | NP_001182727.1:p.Asn688GlnfsTer29 | |
| NM_001195799.2:c.1938dup | NP_001182728.1:p.Asn647GlnfsTer29 | |
| NM_001195800.2:c.1557dup | NP_001182729.1:p.Asn520GlnfsTer29 | |
| NM_001195803.2:c.1606+210dup | NP_001182732.1:n.1606+210dup |