Linked Data
ClinVar Variation Id:
581236
ClinVar RCV Id:
RCV000704999
dbSNP Id:
rs757347826
ExAC:
1:100336057 C / T
gnomAD v2:
1-100336057-C-T
gnomAD v3:
1-99870501-C-T
gnomAD v4:
1-99870501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99870501C>T , CM000663.2:g.99870501C>T | GRCh38 |
| NC_000001.10:g.100336057C>T , CM000663.1:g.100336057C>T | GRCh37 |
| NC_000001.9:g.100108645C>T | NCBI36 |
| NG_012865.1:g.25418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.766C>T MANE Select | ENSP00000355106.3:p.Arg256Cys | |
| ENST00000637337.1:n.977C>T | ||
| ENST00000294724.8:c.766C>T | ENSP00000294724.4:p.Arg256Cys | |
| ENST00000361302.7:c.718C>T | ENSP00000354971.3:p.Arg240Cys | |
| ENST00000361522.4:c.715C>T | ENSP00000354635.4:p.Arg239Cys | |
| ENST00000361915.7:c.766C>T | ENSP00000355106.3:p.Arg256Cys | |
| ENST00000370161.6:c.718C>T | ENSP00000359180.2:p.Arg240Cys | |
| ENST00000370163.7:c.766C>T | ENSP00000359182.3:p.Arg256Cys | |
| ENST00000370165.7:c.766C>T | ENSP00000359184.3:p.Arg256Cys | |
| NM_000028.2:c.766C>T | NP_000019.2:p.Arg256Cys | |
| NM_000642.2:c.766C>T | NP_000633.2:p.Arg256Cys | |
| NM_000643.2:c.766C>T | NP_000634.2:p.Arg256Cys | |
| NM_000644.2:c.766C>T | NP_000635.2:p.Arg256Cys | |
| NM_000645.2:c.715C>T | NP_000636.2:p.Arg239Cys | |
| NM_000646.2:c.718C>T | NP_000637.2:p.Arg240Cys | |
| XM_005270557.1:c.766C>T | XP_005270614.1:p.Arg256Cys | |
| XM_005270557.2:c.766C>T | XP_005270614.1:p.Arg256Cys | |
| NM_000642.3:c.766C>T MANE Select | NP_000633.2:p.Arg256Cys |