Linked Data
ClinVar Variation Id:
871274
ClinVar RCV Id:
RCV001091133
dbSNP Id:
rs1668199755
MyVariant Identifiers:
chr1:g.216172289A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215998947A>T , CM000663.2:g.215998947A>T | GRCh38 |
| NC_000001.10:g.216172289A>T , CM000663.1:g.216172289A>T | GRCh37 |
| NC_000001.9:g.214238912A>T | NCBI36 |
| NG_009497.1:g.429450T>A | |
| NG_009497.2:g.429502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6597T>A MANE Select | ENSP00000305941.3:p.Leu2199= | |
| ENST00000674083.1:c.6597T>A | ENSP00000501296.1:p.Leu2199= | |
| ENST00000307340.7:c.6597T>A | ENSP00000305941.3:p.Leu2199= | |
| NM_206933.2:c.6597T>A | NP_996816.2:p.Leu2199= | |
| NM_206933.3:c.6597T>A | NP_996816.2:p.Leu2199= | |
| NM_206933.4:c.6597T>A MANE Select | NP_996816.3:p.Leu2199= |