Linked Data
ClinVar Variation Id:
1472238
ClinVar RCV Id:
RCV001975904
dbSNP Id:
rs546902674
ExAC:
5:131721046 C / T
gnomAD v2:
5-131721046-C-T
gnomAD v3:
5-132385354-C-T
gnomAD v4:
5-132385354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385354C>T , CM000667.2:g.132385354C>T | GRCh38 |
| NC_000005.9:g.131721046C>T , CM000667.1:g.131721046C>T | GRCh37 |
| NC_000005.8:g.131748945C>T | NCBI36 |
| NG_008982.1:g.20646C>T | |
| NG_008982.2:g.20651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1040C>T | ENSP00000388838.2:n.665+1040C>T | |
| ENST00000435065.7:c.751C>T | ENSP00000402760.2:p.Arg251Cys | |
| ENST00000448810.6:c.679C>T | ENSP00000401860.2:p.Arg227Cys | |
| ENST00000686757.1:c.698C>T | ENSP00000510721.1:p.Ser233Leu | |
| ENST00000687740.1:n.1839C>T | ||
| ENST00000688151.1:n.1871C>T | ||
| ENST00000689271.1:c.671+1034C>T | ENSP00000510797.1:n.671+1034C>T | |
| ENST00000690900.1:c.672-22C>T | ENSP00000510703.1:n.672-22C>T | |
| ENST00000692212.1:n.505C>T | ||
| ENST00000692355.1:c.204+1053C>T | ||
| ENST00000692413.1:c.698C>T | ENSP00000509374.1:p.Ser233Leu | |
| ENST00000692825.1:c.747C>T | ENSP00000509447.1:n.747C>T | |
| ENST00000693308.1:c.692C>T | ENSP00000509770.1:p.Ser231Leu | |
| ENST00000693763.1:n.1839C>T | ||
| ENST00000245407.8:c.679C>T MANE Select | ENSP00000245407.3:p.Arg227Cys | |
| ENST00000245407.7:c.679C>T | ENSP00000245407.3:p.Arg227Cys | |
| ENST00000415928.5:c.448C>T | ENSP00000388838.1:p.Arg150Cys | |
| ENST00000435065.6:c.751C>T | ENSP00000402760.2:p.Arg251Cys | |
| ENST00000437841.6:c.420C>T | ENSP00000400553.1:p.Phe140= | |
| ENST00000448810.5:c.27C>T | ||
| ENST00000461013.5:n.8101C>T | ||
| NM_001308122.1:c.751C>T | NP_001295051.1:p.Arg251Cys | |
| NM_003060.3:c.679C>T | NP_003051.1:p.Arg227Cys | |
| XM_011543590.1:c.61C>T | XP_011541892.1:p.Arg21Cys | |
| XR_427718.1:n.1039C>T | ||
| XR_948290.1:n.1020C>T | ||
| XR_948291.1:n.1033C>T | ||
| XM_011543590.2:c.61C>T | XP_011541892.1:p.Arg21Cys | |
| XM_017009778.2:c.151C>T | XP_016865267.1:p.Arg51Cys | |
| XR_001742215.1:n.1020C>T | ||
| XR_001742216.1:n.1039C>T | ||
| XR_427718.2:n.1039C>T | ||
| XR_948290.2:n.1020C>T | ||
| XR_948291.2:n.1033C>T | ||
| NM_003060.4:c.679C>T MANE Select | NP_003051.1:p.Arg227Cys | |
| NM_001308122.2:c.751C>T | NP_001295051.1:p.Arg251Cys |