Linked Data
ClinVar Variation Id:
2056864
ClinVar RCV Id:
RCV002914716
dbSNP Id:
rs745539197
ExAC:
19:13183865 C / T
gnomAD v2:
19-13183865-C-T
gnomAD v3:
19-13073051-C-T
gnomAD v4:
19-13073051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13073051C>T , CM000681.2:g.13073051C>T | GRCh38 |
| NC_000019.9:g.13183865C>T , CM000681.1:g.13183865C>T | GRCh37 |
| NC_000019.8:g.13044865C>T | NCBI36 |
| NG_032925.2:g.82282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358552.8:c.561C>T | ENSP00000351354.5:p.Ser187= | |
| ENST00000622520.2:c.561C>T | ENSP00000481181.2:p.Ser187= | |
| ENST00000693124.1:c.382C>T | ||
| ENST00000592199.6:c.564C>T MANE Select | ENSP00000467512.1:p.Ser188= | |
| ENST00000676441.1:c.588C>T | ENSP00000502554.1:p.Ser196= | |
| ENST00000358552.7:c.573C>T | ENSP00000351354.4:p.Ser191= | |
| ENST00000360105.8:c.573C>T | ENSP00000353219.4:p.Ser191= | |
| ENST00000397661.6:c.564C>T | ENSP00000380781.2:p.Ser188= | |
| ENST00000585382.5:c.239C>T | ENSP00000466605.1:p.Pro80Leu | |
| ENST00000585575.5:c.540C>T | ENSP00000468794.1:p.Ser180= | |
| ENST00000586797.5:c.*395C>T | ENSP00000467536.1:n.*395C>T | |
| ENST00000587260.1:c.561C>T | ENSP00000467785.1:p.Ser187= | |
| ENST00000587760.5:c.540C>T | ENSP00000466389.1:p.Ser180= | |
| ENST00000588228.5:c.423C>T | ENSP00000466735.1:p.Ser141= | |
| ENST00000588680.1:n.72C>T | ||
| ENST00000592199.5:c.564C>T | ENSP00000467512.1:p.Ser188= | |
| NM_001271043.2:c.588C>T | NP_001257972.1:p.Ser196= | |
| NM_001271044.2:c.540C>T | NP_001257973.1:p.Ser180= | |
| NM_002501.3:c.564C>T | NP_002492.2:p.Ser188= | |
| XM_005259917.3:c.741C>T | XP_005259974.1:p.Ser247= | |
| XM_005259918.3:c.564C>T | XP_005259975.1:p.Ser188= | |
| XM_005259919.3:c.741C>T | XP_005259976.1:p.Ser247= | |
| XM_005259920.3:c.540C>T | XP_005259977.1:p.Ser180= | |
| XM_005259921.3:c.741C>T | XP_005259978.1:p.Ser247= | |
| XM_005259922.3:c.741C>T | XP_005259979.1:p.Ser247= | |
| XM_006722760.2:c.741C>T | XP_006722823.1:p.Ser247= | |
| XM_011528040.1:c.612C>T | XP_011526342.1:p.Ser204= | |
| NM_001365902.1:c.564C>T | NP_001352831.1:p.Ser188= | |
| NM_001365982.1:c.564C>T | NP_001352911.1:p.Ser188= | |
| NM_001365983.1:c.423C>T | NP_001352912.1:p.Ser141= | |
| NM_001365984.1:c.561C>T | NP_001352913.1:p.Ser187= | |
| NM_001365985.1:c.561C>T | NP_001352914.1:p.Ser187= | |
| XM_005259917.4:c.741C>T | XP_005259974.1:p.Ser247= | |
| NM_001271044.3:c.540C>T | NP_001257973.1:p.Ser180= | |
| NM_001365902.2:c.564C>T | NP_001352831.1:p.Ser188= | |
| NM_001365982.2:c.564C>T | NP_001352911.1:p.Ser188= | |
| NM_001365983.2:c.423C>T | NP_001352912.1:p.Ser141= | |
| NM_001365984.2:c.561C>T | NP_001352913.1:p.Ser187= | |
| NM_001365985.2:c.561C>T | NP_001352914.1:p.Ser187= | |
| NM_002501.4:c.564C>T | NP_002492.2:p.Ser188= | |
| NM_001365902.3:c.564C>T MANE Select | NP_001352831.1:p.Ser188= | |
| NM_001378404.1:c.540C>T | NP_001365333.1:p.Ser180= | |
| NM_001378405.1:c.612C>T | NP_001365334.1:p.Ser204= |