Linked Data
ClinVar Variation Id:
293485
ClinVar RCV Id:
RCV000331223
dbSNP Id:
rs886045515
gnomAD v4:
1-168313245-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168313245T>C , CM000663.2:g.168313245T>C | GRCh38 |
| NC_000001.10:g.168282483T>C , CM000663.1:g.168282483T>C | GRCh37 |
| NC_000001.9:g.166549107T>C | NCBI36 |
| NG_008244.1:g.37206T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.*243T>C MANE Select | ENSP00000356795.3:n.*243T>C | |
| ENST00000367821.7:c.*243T>C | ENSP00000356795.3:n.*243T>C | |
| ENST00000431969.5:c.1198T>C | ||
| ENST00000441464.1:c.1087T>C | ||
| ENST00000465440.1:n.1399T>C | ||
| NM_005149.2:c.*243T>C | NP_005140.1:n.*243T>C | |
| NM_005149.3:c.*243T>C MANE Select | NP_005140.1:n.*243T>C |