Linked Data
ClinVar Variation Id:
30692
ClinVar RCV Id:
RCV000023670
dbSNP Id:
rs387906977
ExAC:
11:95546134 C / T
gnomAD v2:
11-95546134-C-T
gnomAD v4:
11-95812970-C-T
COSMIC:
COSM1200828
PubMed:
PMID:21552266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95812970C>T , CM000673.2:g.95812970C>T | GRCh38 |
| NC_000011.9:g.95546134C>T , CM000673.1:g.95546134C>T | GRCh37 |
| NC_000011.8:g.95185782C>T | NCBI36 |
| NG_029829.1:g.27510C>T , LRG_526:g.27510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325542.10:c.241C>T MANE Select | ENSP00000317902.5:p.Arg81Ter | |
| ENST00000325486.9:c.241C>T | ENSP00000317487.5:p.Arg81Ter | |
| ENST00000325542.9:c.241C>T | ENSP00000317902.5:p.Arg81Ter | |
| ENST00000535497.1:c.84C>T | ENSP00000442481.1:p.Phe28= | |
| ENST00000536587.5:n.41C>T | ||
| ENST00000537677.5:c.160C>T | ENSP00000441392.1:p.Arg54Ter | |
| ENST00000538095.1:c.*221C>T | ENSP00000443866.1:n.*221C>T | |
| ENST00000538658.5:c.241C>T | ENSP00000445706.1:p.Arg81Ter | |
| ENST00000539855.5:c.*20C>T | ENSP00000437422.1:n.*20C>T | |
| ENST00000540830.5:c.*5C>T | ENSP00000440996.1:n.*5C>T | |
| ENST00000541150.5:c.214C>T | ENSP00000443436.1:p.Arg72Ter | |
| ENST00000541365.5:c.160C>T | ENSP00000445821.1:p.Arg54Ter | |
| ENST00000544522.5:c.214C>T | ENSP00000438065.1:p.Arg72Ter | |
| NM_001243776.1:c.214C>T | NP_001230705.1:p.Arg72Ter | |
| NM_001243777.1:c.241C>T | NP_001230706.1:p.Arg81Ter | |
| NM_014679.4:c.241C>T | NP_055494.2:p.Arg81Ter | |
| XM_006718945.2:c.241C>T | XP_006719008.1:p.Arg81Ter | |
| XM_006718946.2:c.241C>T | XP_006719009.1:p.Arg81Ter | |
| NM_001363604.1:c.160C>T | NP_001350533.1:p.Arg54Ter | |
| XM_006718945.3:c.241C>T | XP_006719008.1:p.Arg81Ter | |
| XM_006718946.3:c.241C>T | XP_006719009.1:p.Arg81Ter | |
| XM_017018592.1:c.214C>T | XP_016874081.1:p.Arg72Ter | |
| XM_017018593.2:c.241C>T | XP_016874082.1:p.Arg81Ter | |
| XM_017018594.2:c.241C>T | XP_016874083.1:p.Arg81Ter | |
| XM_024448779.1:c.160C>T | XP_024304547.1:p.Arg54Ter | |
| XR_001748050.2:n.469C>T | ||
| NM_014679.5:c.241C>T MANE Select | NP_055494.2:p.Arg81Ter | |
| NM_001243776.2:c.214C>T | NP_001230705.1:p.Arg72Ter | |
| NM_001243777.2:c.241C>T | NP_001230706.1:p.Arg81Ter | |
| NM_001363604.2:c.160C>T | NP_001350533.1:p.Arg54Ter |