Linked Data
ClinVar Variation Id:
1541408
ClinVar RCV Id:
RCV002179475
dbSNP Id:
rs1570944839
MyVariant Identifiers:
chr1:g.17349157T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022662T>G , CM000663.2:g.17022662T>G | GRCh38 |
| NC_000001.10:g.17349157T>G , CM000663.1:g.17349157T>G | GRCh37 |
| NC_000001.9:g.17221744T>G | NCBI36 |
| NG_012340.1:g.36509A>C , LRG_316:g.36509A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.540A>C | ENSP00000481376.2:p.Pro180= | |
| ENST00000491274.6:c.669A>C | ENSP00000480482.2:p.Pro223= | |
| ENST00000375499.8:c.711A>C MANE Select | ENSP00000364649.3:p.Pro237= | |
| ENST00000375499.7:c.711A>C | ENSP00000364649.3:p.Pro237= | |
| ENST00000475049.5:n.136A>C | ||
| ENST00000485092.5:n.375A>C | ||
| ENST00000485515.5:n.645A>C | ||
| NM_003000.2:c.711A>C , LRG_316t1:c.711A>C | NP_002991.2:p.Pro237= | |
| NM_003000.3:c.711A>C MANE Select | NP_002991.2:p.Pro237= |