Linked Data
ClinVar Variation Id:
2950649
ClinVar RCV Id:
RCV003809959
dbSNP Id:
rs1672295219
gnomAD v4:
1-161356828-G-T
MyVariant Identifiers:
chr1:g.161326618G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356828G>T , CM000663.2:g.161356828G>T | GRCh38 |
| NC_000001.10:g.161326618G>T , CM000663.1:g.161326618G>T | GRCh37 |
| NC_000001.9:g.159593242G>T | NCBI36 |
| NG_012767.1:g.47453G>T , LRG_317:g.47453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*394G>T | ENSP00000482902.2:n.*394G>T | |
| ENST00000367975.7:c.393G>T MANE Select | ENSP00000356953.3:p.Gly131= | |
| ENST00000342751.8:c.242-5501G>T | ENSP00000356952.3:n.242-5501G>T | |
| ENST00000367975.6:c.393G>T | ENSP00000356953.2:p.Gly131= | |
| ENST00000392169.6:c.234G>T | ENSP00000376009.2:p.Gly78= | |
| ENST00000432287.6:c.291G>T | ENSP00000390558.2:p.Gly97= | |
| ENST00000470743.4:c.491G>T | ||
| ENST00000504963.5:c.*216G>T | ENSP00000423929.1:n.*216G>T | |
| ENST00000513009.5:c.140-5501G>T | ENSP00000423260.1:n.140-5501G>T | |
| NM_001035511.1:c.242-5501G>T | NP_001030588.1:n.242-5501G>T | |
| NM_001035512.1:c.291G>T | NP_001030589.1:p.Gly97= | |
| NM_001035513.1:c.234G>T | NP_001030590.1:p.Gly78= | |
| NM_001278172.1:c.140-5501G>T | NP_001265101.1:n.140-5501G>T | |
| NM_003001.3:c.393G>T , LRG_317t1:c.393G>T | NP_002992.1:p.Gly131= | |
| NR_103459.1:n.450G>T | ||
| NM_001035511.2:c.242-5501G>T | NP_001030588.1:n.242-5501G>T | |
| NM_001035512.2:c.291G>T | NP_001030589.1:p.Gly97= | |
| NM_001035513.2:c.234G>T | NP_001030590.1:p.Gly78= | |
| NM_001278172.2:c.140-5501G>T | NP_001265101.1:n.140-5501G>T | |
| NM_003001.5:c.393G>T MANE Select | NP_002992.1:p.Gly131= | |
| NR_103459.2:n.445G>T |