Linked Data
ClinVar Variation Id:
1002804
ClinVar RCV Id:
RCV001299278
dbSNP Id:
rs1886426829
gnomAD v4:
14-50199811-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199811A>C , CM000676.2:g.50199811A>C | GRCh38 |
| NC_000014.8:g.50666529A>C , CM000676.1:g.50666529A>C | GRCh37 |
| NC_000014.7:g.49736279A>C | NCBI36 |
| NG_051073.1:g.36883T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.390T>G MANE Select | ENSP00000216373.5:p.Ile130Met | |
| ENST00000216373.9:c.390T>G | ENSP00000216373.5:p.Ile130Met | |
| ENST00000543680.5:c.390T>G | ENSP00000445328.1:p.Ile130Met | |
| ENST00000555666.1:n.569T>G | ||
| ENST00000556469.5:n.361T>G | ||
| NM_006939.2:c.390T>G | NP_008870.2:p.Ile130Met | |
| XM_005268021.1:c.210T>G | XP_005268078.1:p.Ile70Met | |
| XM_011537103.1:c.351T>G | XP_011535405.1:p.Ile117Met | |
| XM_011537104.1:c.390T>G | XP_011535406.1:p.Ile130Met | |
| XR_943842.1:n.1039+15939A>C | ||
| XR_943843.1:n.1039+15939A>C | ||
| NM_006939.3:c.390T>G | NP_008870.2:p.Ile130Met | |
| NM_006939.4:c.390T>G MANE Select | NP_008870.2:p.Ile130Met |