Linked Data
ClinVar Variation Id:
1298879
ClinVar RCV Id:
RCV001727209
dbSNP Id:
rs145564988
gnomAD v4:
21-25891785-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891785G>C , CM000683.2:g.25891785G>C | GRCh38 |
| NC_000021.8:g.27264097G>C , CM000683.1:g.27264097G>C | GRCh37 |
| NC_000021.7:g.26185968G>C | NCBI36 |
| NG_007376.1:g.284036C>G | |
| NG_007376.2:g.284344C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2115C>G | ||
| ENST00000707133.1:n.545C>G | ||
| ENST00000707134.1:n.814C>G | ||
| ENST00000346798.8:c.2148C>G MANE Select | ENSP00000284981.4:p.Ile716Met | |
| ENST00000346798.7:c.2148C>G | ENSP00000284981.4:p.Ile716Met | |
| ENST00000348990.9:c.1923C>G | ENSP00000345463.5:p.Ile641Met | |
| ENST00000354192.7:c.1755C>G | ENSP00000346129.3:p.Ile585Met | |
| ENST00000357903.7:c.2091C>G | ENSP00000350578.3:p.Ile697Met | |
| ENST00000358918.7:c.2094C>G | ENSP00000351796.3:p.Ile698Met | |
| ENST00000359726.7:c.1818C>G | ENSP00000352760.4:p.Ile606Met | |
| ENST00000439274.6:c.1980C>G | ENSP00000398879.2:p.Ile660Met | |
| ENST00000440126.7:c.2076C>G | ENSP00000387483.2:p.Ile692Met | |
| ENST00000464867.1:n.495C>G | ||
| NM_000484.3:c.2148C>G | NP_000475.1:p.Ile716Met | |
| NM_001136016.3:c.2076C>G | NP_001129488.1:p.Ile692Met | |
| NM_001136129.2:c.1755C>G | NP_001129601.1:p.Ile585Met | |
| NM_001136130.2:c.1980C>G | NP_001129602.1:p.Ile660Met | |
| NM_001136131.2:c.1818C>G | NP_001129603.1:p.Ile606Met | |
| NM_001204301.1:c.2094C>G | NP_001191230.1:p.Ile698Met | |
| NM_001204302.1:c.2037C>G | NP_001191231.1:p.Ile679Met | |
| NM_001204303.1:c.1869C>G | NP_001191232.1:p.Ile623Met | |
| NM_201413.2:c.2091C>G | NP_958816.1:p.Ile697Met | |
| NM_201414.2:c.1923C>G | NP_958817.1:p.Ile641Met | |
| NM_000484.4:c.2148C>G MANE Select | NP_000475.1:p.Ile716Met | |
| NM_001136129.3:c.1755C>G | NP_001129601.1:p.Ile585Met | |
| NM_001136130.3:c.1980C>G | NP_001129602.1:p.Ile660Met | |
| NM_001204301.2:c.2094C>G | NP_001191230.1:p.Ile698Met | |
| NM_001204302.2:c.2037C>G | NP_001191231.1:p.Ile679Met | |
| NM_001204303.2:c.1869C>G | NP_001191232.1:p.Ile623Met | |
| NM_201413.3:c.2091C>G | NP_958816.1:p.Ile697Met | |
| NM_201414.3:c.1923C>G | NP_958817.1:p.Ile641Met | |
| NM_001136131.3:c.1818C>G | NP_001129603.1:p.Ile606Met | |
| NM_001385253.1:c.1980C>G | NP_001372182.1:p.Ile660Met |