Linked Data
ClinVar Variation Id:
128484
ClinVar RCV Id:
RCV000116453
RCV000340757
RCV000390132
RCV000710691
RCV001093789
RCV002259630
RCV002259631
RCV002313857
dbSNP Id:
rs74123254
ExAC:
1:160109701 C / T
gnomAD v2:
1-160109701-C-T
gnomAD v3:
1-160139911-C-T
gnomAD v4:
1-160139911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139911C>T , CM000663.2:g.160139911C>T | GRCh38 |
| NC_000001.10:g.160109701C>T , CM000663.1:g.160109701C>T | GRCh37 |
| NC_000001.9:g.158376325C>T | NCBI36 |
| NG_008014.1:g.29154C>T , LRG_6:g.29154C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.2961C>T MANE Select | ENSP00000354490.3:p.Cys987= | |
| ENST00000361216.7:c.2961C>T | ENSP00000354490.3:p.Cys987= | |
| ENST00000392233.7:c.2943-15C>T | ENSP00000376066.3:n.2943-15C>T | |
| ENST00000447527.1:c.2042C>T | ||
| ENST00000463989.1:n.297C>T | ||
| NM_000702.3:c.2961C>T | NP_000693.1:p.Cys987= | |
| NM_000702.4:c.2961C>T MANE Select | NP_000693.1:p.Cys987= |