Linked Data
ClinVar Variation Id:
402207
ClinVar RCV Id:
RCV000454195
dbSNP Id:
rs1060499772
gnomAD v4:
2-135943412-C-G
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135943412C>G , CM000664.2:g.135943412C>G | GRCh38 |
| NC_000002.11:g.136700982C>G , CM000664.1:g.136700982C>G | GRCh37 |
| NC_000002.10:g.136417452C>G | NCBI36 |
| NG_034149.1:g.47273G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264161.9:c.389G>C MANE Select | ENSP00000264161.4:p.Cys130Ser | |
| ENST00000264161.8:c.389G>C | ENSP00000264161.4:p.Cys130Ser | |
| ENST00000435076.1:c.484G>C | ||
| ENST00000441323.5:c.290G>C | ENSP00000389867.1:p.Cys97Ser | |
| ENST00000449218.5:c.290G>C | ENSP00000388801.1:p.Cys97Ser | |
| ENST00000456565.5:c.290G>C | ENSP00000397616.1:p.Cys97Ser | |
| ENST00000463008.1:n.386G>C | ||
| NM_001293312.1:c.89G>C | NP_001280241.1:p.Cys30Ser | |
| NM_001349.3:c.389G>C | NP_001340.2:p.Cys130Ser | |
| NM_001349.4:c.389G>C MANE Select | NP_001340.2:p.Cys130Ser |