Linked Data
ClinVar Variation Id:
184523
dbSNP Id:
rs369458366
ExAC:
17:29546094 C / G
gnomAD v2:
17-29546094-C-G
gnomAD v3:
17-31219076-C-G
gnomAD v4:
17-31219076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31219076C>G , CM000679.2:g.31219076C>G | GRCh38 |
| NC_000017.10:g.29546094C>G , CM000679.1:g.29546094C>G | GRCh37 |
| NC_000017.9:g.26570220C>G | NCBI36 |
| NG_009018.1:g.129100C>G , LRG_214:g.129100C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1644C>G | ENSP00000512431.1:p.Val548= | |
| ENST00000686189.1:c.1044C>G | ENSP00000509682.1:p.Val348= | |
| ENST00000691014.1:c.1629C>G | ENSP00000510595.1:p.Val543= | |
| ENST00000358273.9:c.1599C>G MANE Select | ENSP00000351015.4:p.Val533= | |
| ENST00000356175.7:c.1599C>G | ENSP00000348498.3:p.Val533= | |
| ENST00000358273.8:c.1599C>G | ENSP00000351015.4:p.Val533= | |
| ENST00000431387.8:c.1599C>G | ENSP00000412921.4:p.Val533= | |
| ENST00000456735.6:c.597C>G | ENSP00000389907.2:p.Val199= | |
| ENST00000487476.5:n.1982C>G | ||
| ENST00000495910.6:c.1374C>G | ||
| ENST00000579081.5:c.1701C>G | ENSP00000462408.1:p.Val567= | |
| NM_000267.3:c.1599C>G , LRG_214t1:c.1599C>G | NP_000258.1:p.Val533= | |
| NM_001042492.2:c.1599C>G , LRG_214t2:c.1599C>G | NP_001035957.1:p.Val533= | |
| NM_001128147.2:c.1599C>G | NP_001121619.1:p.Val533= | |
| XM_005257983.1:c.1599C>G | XP_005258040.1:p.Val533= | |
| XM_005257984.1:c.1599C>G | XP_005258041.1:p.Val533= | |
| XM_006721922.1:c.1629C>G | XP_006721985.1:p.Val543= | |
| XM_006721923.2:c.1590C>G | XP_006721986.1:p.Val530= | |
| XM_006721924.1:c.1629C>G | XP_006721987.1:p.Val543= | |
| XM_006721925.1:c.1629C>G | XP_006721988.1:p.Val543= | |
| XM_006721926.2:c.1629C>G | XP_006721989.1:p.Val543= | |
| XM_006721927.1:c.1629C>G | XP_006721990.1:p.Val543= | |
| XM_006721928.2:c.1629C>G | XP_006721991.1:p.Val543= | |
| XM_011524852.1:c.1629C>G | XP_011523154.1:p.Val543= | |
| XM_011524853.1:c.1590C>G | XP_011523155.1:p.Val530= | |
| XM_011524854.1:c.1590C>G | XP_011523156.1:p.Val530= | |
| XM_011524855.1:c.1590C>G | XP_011523157.1:p.Val530= | |
| XM_011524856.1:c.1590C>G | XP_011523158.1:p.Val530= | |
| XM_011524857.1:c.1629C>G | XP_011523159.1:p.Val543= | |
| NM_001042492.3:c.1599C>G MANE Select | NP_001035957.1:p.Val533= | |
| NM_001128147.3:c.1599C>G | NP_001121619.1:p.Val533= |