Linked Data
ClinVar Variation Id:
987779
ClinVar RCV Id:
RCV001269079
dbSNP Id:
rs1875354018
ERepo:
CA16020841/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855151_102855152insC , CM000674.2:g.102855151_102855152insC | GRCh38 |
| NC_000012.11:g.103248929_103248930insC , CM000674.1:g.103248929_103248930insC | GRCh37 |
| NC_000012.10:g.101773059_101773060insC | NCBI36 |
| NG_008690.1:g.67451_67452insG | |
| NG_008690.2:g.108259_108260insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.690_691insG MANE Select | ENSP00000448059.1:p.Ser231ValfsTer? | |
| ENST00000307000.7:c.675_676insG | ENSP00000303500.2:p.Ser226ValfsTer? | |
| ENST00000549111.5:n.786_787insG | ||
| ENST00000553106.5:c.690_691insG | ENSP00000448059.1:p.Ser231ValfsTer? | |
| NM_000277.1:c.690_691insG | NP_000268.1:p.Ser231ValfsTer? | |
| XM_011538422.1:c.690_691insG | XP_011536724.1:p.Ser231ValfsTer? | |
| NM_000277.2:c.690_691insG | NP_000268.1:p.Ser231ValfsTer? | |
| NM_001354304.1:c.690_691insG | NP_001341233.1:p.Ser231ValfsTer? | |
| XM_017019370.2:c.690_691insG | XP_016874859.1:p.Ser231ValfsTer13 | |
| NM_000277.3:c.690_691insG MANE Select | NP_000268.1:p.Ser231ValfsTer? | |
| NM_001354304.2:c.690_691insG | NP_001341233.1:p.Ser231ValfsTer? |