Linked Data
ClinVar Variation Id:
217351
ClinVar RCV Id:
RCV000203319
dbSNP Id:
rs864309700
PubMed:
PMID:26694549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207210T>C , CM000684.2:g.25207210T>C | GRCh38 |
| NC_000022.10:g.25603177T>C , CM000684.1:g.25603177T>C | GRCh37 |
| NC_000022.9:g.23933177T>C | NCBI36 |
| NG_009828.1:g.12353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215855.7:c.634T>C MANE Select | ENSP00000215855.2:p.Ter212Arg | |
| ENST00000215855.6:c.634T>C | ENSP00000215855.2:p.Ter212Arg | |
| ENST00000404334.1:c.*149T>C | ENSP00000386123.1:n.*149T>C | |
| NM_004076.4:c.634T>C | NP_004067.1:p.Ter212Arg | |
| XM_011529902.1:c.802T>C | XP_011528204.1:p.Ter268Arg | |
| XM_011529902.3:c.802T>C | XP_011528204.1:p.Ter268Arg | |
| XM_017028599.2:c.*149T>C | XP_016884088.1:n.*149T>C | |
| NM_004076.5:c.634T>C MANE Select | NP_004067.1:p.Ter212Arg |