Linked Data
ClinVar Variation Id:
354
ClinVar RCV Id:
RCV000000382
RCV000492667
RCV000757556
RCV001009573
RCV001257527
RCV001813925
RCV002504731
RCV003460400
dbSNP Id:
rs137854557
ExAC:
17:29541542 A / G
gnomAD v2:
17-29541542-A-G
gnomAD v3:
17-31214524-A-G
gnomAD v4:
17-31214524-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31214524A>G , CM000679.2:g.31214524A>G | GRCh38 |
| NC_000017.10:g.29541542A>G , CM000679.1:g.29541542A>G | GRCh37 |
| NC_000017.9:g.26565668A>G | NCBI36 |
| NG_009018.1:g.124548A>G , LRG_214:g.124548A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1511A>G | ENSP00000512431.1:p.Tyr504Cys | |
| ENST00000686189.1:c.911A>G | ENSP00000509682.1:p.Tyr304Cys | |
| ENST00000691014.1:c.1496A>G | ENSP00000510595.1:p.Tyr499Cys | |
| ENST00000358273.9:c.1466A>G MANE Select | ENSP00000351015.4:p.Tyr489Cys | |
| ENST00000356175.7:c.1466A>G | ENSP00000348498.3:p.Tyr489Cys | |
| ENST00000358273.8:c.1466A>G | ENSP00000351015.4:p.Tyr489Cys | |
| ENST00000431387.8:c.1466A>G | ENSP00000412921.4:p.Tyr489Cys | |
| ENST00000456735.6:c.464A>G | ENSP00000389907.2:p.Tyr155Cys | |
| ENST00000487476.5:n.1849A>G | ||
| ENST00000495910.6:c.1241A>G | ||
| ENST00000579081.5:c.1568A>G | ENSP00000462408.1:p.Tyr523Cys | |
| NM_000267.3:c.1466A>G , LRG_214t1:c.1466A>G | NP_000258.1:p.Tyr489Cys | |
| NM_001042492.2:c.1466A>G , LRG_214t2:c.1466A>G | NP_001035957.1:p.Tyr489Cys | |
| NM_001128147.2:c.1466A>G | NP_001121619.1:p.Tyr489Cys | |
| XM_005257983.1:c.1466A>G | XP_005258040.1:p.Tyr489Cys | |
| XM_005257984.1:c.1466A>G | XP_005258041.1:p.Tyr489Cys | |
| XM_006721922.1:c.1496A>G | XP_006721985.1:p.Tyr499Cys | |
| XM_006721923.2:c.1457A>G | XP_006721986.1:p.Tyr486Cys | |
| XM_006721924.1:c.1496A>G | XP_006721987.1:p.Tyr499Cys | |
| XM_006721925.1:c.1496A>G | XP_006721988.1:p.Tyr499Cys | |
| XM_006721926.2:c.1496A>G | XP_006721989.1:p.Tyr499Cys | |
| XM_006721927.1:c.1496A>G | XP_006721990.1:p.Tyr499Cys | |
| XM_006721928.2:c.1496A>G | XP_006721991.1:p.Tyr499Cys | |
| XM_011524852.1:c.1496A>G | XP_011523154.1:p.Tyr499Cys | |
| XM_011524853.1:c.1457A>G | XP_011523155.1:p.Tyr486Cys | |
| XM_011524854.1:c.1457A>G | XP_011523156.1:p.Tyr486Cys | |
| XM_011524855.1:c.1457A>G | XP_011523157.1:p.Tyr486Cys | |
| XM_011524856.1:c.1457A>G | XP_011523158.1:p.Tyr486Cys | |
| XM_011524857.1:c.1496A>G | XP_011523159.1:p.Tyr499Cys | |
| NM_001042492.3:c.1466A>G MANE Select | NP_001035957.1:p.Tyr489Cys | |
| NM_001128147.3:c.1466A>G | NP_001121619.1:p.Tyr489Cys |