Linked Data
ClinVar Variation Id:
1663369
ClinVar RCV Id:
RCV002188468
dbSNP Id:
rs2102796513
MyVariant Identifiers:
chr1:g.215990489A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817147A>G , CM000663.2:g.215817147A>G | GRCh38 |
| NC_000001.10:g.215990489A>G , CM000663.1:g.215990489A>G | GRCh37 |
| NC_000001.9:g.214057112A>G | NCBI36 |
| NG_009497.1:g.611250T>C | |
| NG_009497.2:g.611302T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9420T>C MANE Select | ENSP00000305941.3:p.Ile3140= | |
| ENST00000674083.1:c.9420T>C | ENSP00000501296.1:p.Ile3140= | |
| ENST00000307340.7:c.9420T>C | ENSP00000305941.3:p.Ile3140= | |
| NM_206933.2:c.9420T>C | NP_996816.2:p.Ile3140= | |
| NM_206933.3:c.9420T>C | NP_996816.2:p.Ile3140= | |
| NM_206933.4:c.9420T>C MANE Select | NP_996816.3:p.Ile3140= |