Linked Data
ClinVar Variation Id:
1153500
ClinVar RCV Id:
RCV001495162
dbSNP Id:
rs2101523383
MyVariant Identifiers:
chr1:g.17355215A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028720A>G , CM000663.2:g.17028720A>G | GRCh38 |
| NC_000001.10:g.17355215A>G , CM000663.1:g.17355215A>G | GRCh37 |
| NC_000001.9:g.17227802A>G | NCBI36 |
| NG_012340.1:g.30451T>C , LRG_316:g.30451T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.132T>C | ENSP00000481376.2:p.Cys44= | |
| ENST00000491274.6:c.261T>C | ENSP00000480482.2:p.Cys87= | |
| ENST00000375499.8:c.303T>C MANE Select | ENSP00000364649.3:p.Cys101= | |
| ENST00000375499.7:c.303T>C | ENSP00000364649.3:p.Cys101= | |
| ENST00000463045.2:c.132T>C | ENSP00000481376.1:p.Cys44= | |
| ENST00000475506.1:n.220T>C | ||
| ENST00000485515.5:n.291T>C | ||
| ENST00000491274.5:c.261T>C | ENSP00000480482.1:p.Cys87= | |
| NM_003000.2:c.303T>C , LRG_316t1:c.303T>C | NP_002991.2:p.Cys101= | |
| NM_003000.3:c.303T>C MANE Select | NP_002991.2:p.Cys101= |