Linked Data
ClinVar Variation Id:
142804
ClinVar RCV Id:
RCV000132225
RCV000168027
RCV000484858
RCV000515448
RCV001128219
RCV001128218
RCV001128217
RCV002345446
dbSNP Id:
rs368654378
ExAC:
17:29654761 C / G
gnomAD v2:
17-29654761-C-G
gnomAD v3:
17-31327743-C-G
gnomAD v4:
17-31327743-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327743C>G , CM000679.2:g.31327743C>G | GRCh38 |
| NC_000017.10:g.29654761C>G , CM000679.1:g.29654761C>G | GRCh37 |
| NC_000017.9:g.26678887C>G | NCBI36 |
| NG_009018.1:g.237767C>G , LRG_214:g.237767C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1701C>G | ENSP00000492721.2:n.1701C>G | |
| ENST00000696138.1:c.5495C>G | ENSP00000512431.1:p.Ser1832Cys | |
| ENST00000684826.1:c.77C>G | ENSP00000509994.1:p.Ser26Cys | |
| ENST00000687027.1:c.-236+1491C>G | ENSP00000508715.1:n.-236+1491C>G | |
| ENST00000687863.1:n.2158C>G | ||
| ENST00000691014.1:c.5543C>G | ENSP00000510595.1:p.Ser1848Cys | |
| ENST00000693617.1:c.77C>G | ENSP00000510031.1:p.Ser26Cys | |
| ENST00000358273.9:c.5513C>G MANE Select | ENSP00000351015.4:p.Ser1838Cys | |
| ENST00000356175.7:c.5450C>G | ENSP00000348498.3:p.Ser1817Cys | |
| ENST00000358273.8:c.5513C>G | ENSP00000351015.4:p.Ser1838Cys | |
| ENST00000456735.6:c.4448C>G | ENSP00000389907.2:p.Ser1483Cys | |
| ENST00000493220.5:n.3986C>G | ||
| ENST00000579081.5:c.5649C>G | ENSP00000462408.1:n.5649C>G | |
| ENST00000581113.6:n.830C>G | ||
| NM_000267.3:c.5450C>G , LRG_214t1:c.5450C>G | NP_000258.1:p.Ser1817Cys | |
| NM_001042492.2:c.5513C>G , LRG_214t2:c.5513C>G | NP_001035957.1:p.Ser1838Cys | |
| XM_005257983.1:c.5513C>G | XP_005258040.1:p.Ser1838Cys | |
| XM_005257984.1:c.5450C>G | XP_005258041.1:p.Ser1817Cys | |
| XM_006721922.1:c.5543C>G | XP_006721985.1:p.Ser1848Cys | |
| XM_006721923.2:c.5504C>G | XP_006721986.1:p.Ser1835Cys | |
| XM_006721924.1:c.5543C>G | XP_006721987.1:p.Ser1848Cys | |
| XM_006721925.1:c.5480C>G | XP_006721988.1:p.Ser1827Cys | |
| XM_006721926.2:c.5543C>G | XP_006721989.1:p.Ser1848Cys | |
| XM_006721927.1:c.5543C>G | XP_006721990.1:p.Ser1848Cys | |
| XM_011524852.1:c.5540C>G | XP_011523154.1:p.Ser1847Cys | |
| XM_011524853.1:c.5504C>G | XP_011523155.1:p.Ser1835Cys | |
| XM_011524854.1:c.5504C>G | XP_011523156.1:p.Ser1835Cys | |
| XM_011524855.1:c.5504C>G | XP_011523157.1:p.Ser1835Cys | |
| XM_011524856.1:c.5504C>G | XP_011523158.1:p.Ser1835Cys | |
| XM_011524857.1:c.5543C>G | XP_011523159.1:p.Ser1848Cys | |
| NM_001042492.3:c.5513C>G MANE Select | NP_001035957.1:p.Ser1838Cys |