Linked Data
ClinVar Variation Id:
460399
dbSNP Id:
rs377216516
ExAC:
5:131729379 C / T
gnomAD v2:
5-131729379-C-T
gnomAD v3:
5-132393687-C-T
gnomAD v4:
5-132393687-C-T
COSMIC:
COSM1720446
PubMed:
PMID:16652335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393687C>T , CM000667.2:g.132393687C>T | GRCh38 |
| NC_000005.9:g.131729379C>T , CM000667.1:g.131729379C>T | GRCh37 |
| NC_000005.8:g.131757278C>T | NCBI36 |
| NG_008982.1:g.28979C>T | |
| NG_008982.2:g.28984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-498C>T | ENSP00000388838.2:n.1292-498C>T | |
| ENST00000435065.7:c.1534C>T | ENSP00000402760.2:p.Arg512Cys | |
| ENST00000448810.6:c.*314C>T | ENSP00000401860.2:n.*314C>T | |
| ENST00000685543.1:n.1603C>T | ||
| ENST00000686757.1:c.*626C>T | ENSP00000510721.1:n.*626C>T | |
| ENST00000686868.1:n.454C>T | ||
| ENST00000687740.1:n.4147C>T | ||
| ENST00000688151.1:n.2772C>T | ||
| ENST00000689271.1:c.1309C>T | ENSP00000510797.1:p.Arg437Cys | |
| ENST00000690900.1:c.*626C>T | ENSP00000510703.1:n.*626C>T | |
| ENST00000692212.1:n.4602C>T | ||
| ENST00000692355.1:c.715C>T | ||
| ENST00000692413.1:c.1444C>T | ENSP00000509374.1:p.Arg482Cys | |
| ENST00000692825.1:c.1530C>T | ENSP00000509447.1:n.1530C>T | |
| ENST00000693308.1:c.1510C>T | ENSP00000509770.1:p.Arg504Cys | |
| ENST00000693763.1:n.2622C>T | ||
| ENST00000245407.8:c.1462C>T MANE Select | ENSP00000245407.3:p.Arg488Cys | |
| ENST00000245407.7:c.1462C>T | ENSP00000245407.3:p.Arg488Cys | |
| ENST00000435065.6:c.1534C>T | ENSP00000402760.2:p.Arg512Cys | |
| ENST00000447841.5:c.306C>T | ||
| ENST00000448810.5:c.724C>T | ||
| ENST00000461013.5:n.8884C>T | ||
| ENST00000475308.1:n.2140C>T | ||
| NM_001308122.1:c.1534C>T | NP_001295051.1:p.Arg512Cys | |
| NM_003060.3:c.1462C>T | NP_003051.1:p.Arg488Cys | |
| XM_011543590.1:c.844C>T | XP_011541892.1:p.Arg282Cys | |
| XR_948290.1:n.1588C>T | ||
| XM_011543590.2:c.844C>T | XP_011541892.1:p.Arg282Cys | |
| XM_017009778.2:c.934C>T | XP_016865267.1:p.Arg312Cys | |
| XR_001742215.1:n.1717C>T | ||
| XR_001742216.1:n.1736C>T | ||
| XR_427718.2:n.1822C>T | ||
| XR_948290.2:n.1588C>T | ||
| XR_948291.2:n.1816C>T | ||
| NM_003060.4:c.1462C>T MANE Select | NP_003051.1:p.Arg488Cys | |
| NM_001308122.2:c.1534C>T | NP_001295051.1:p.Arg512Cys |