Linked Data
ClinVar Variation Id:
1533818
ClinVar RCV Id:
RCV002082664
dbSNP Id:
rs2102630189
MyVariant Identifiers:
chr1:g.218610832C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437490C>T , CM000663.2:g.218437490C>T | GRCh38 |
| NC_000001.10:g.218610832C>T , CM000663.1:g.218610832C>T | GRCh37 |
| NC_000001.9:g.216677455C>T | NCBI36 |
| NG_027721.1:g.97157C>T | |
| NG_027721.2:g.97157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.1080C>T MANE Select | ENSP00000355897.4:p.His360= | |
| ENST00000366929.4:c.1164C>T | ENSP00000355896.4:p.His388= | |
| ENST00000366930.8:c.1080C>T | ENSP00000355897.4:p.His360= | |
| ENST00000479322.1:n.564C>T | ||
| NM_001135599.2:c.1164C>T | NP_001129071.1:p.His388= | |
| NM_003238.3:c.1080C>T | NP_003229.1:p.His360= | |
| NM_001135599.3:c.1164C>T | NP_001129071.1:p.His388= | |
| NM_003238.4:c.1080C>T | NP_003229.1:p.His360= | |
| NR_138148.1:n.2383C>T | ||
| NR_138149.1:n.2467C>T | ||
| NM_003238.5:c.1080C>T | NP_003229.1:p.His360= | |
| NM_003238.6:c.1080C>T MANE Select | NP_003229.1:p.His360= | |
| NM_001135599.4:c.1164C>T | NP_001129071.1:p.His388= | |
| NR_138148.2:n.2331C>T | ||
| NR_138149.2:n.2415C>T |