Linked Data
ClinVar Variation Id:
30586
dbSNP Id:
rs281875376
gnomAD v2:
1-40758262-G-A
MyVariant Identifiers:
chr1:g.40758262G>A (hg19)
chr1:g.40758262_40758265delinsAGTT (hg19)
chr1:g.40292590G>A (hg38)
chr1:g.40292590_40292593delinsAGTT (hg38)
PubMed:
PMID:20814950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40292590G>A , CM000663.2:g.40292590G>A | GRCh38 |
| NC_000001.10:g.40758262G>A , CM000663.1:g.40758262G>A | GRCh37 |
| NC_000001.9:g.40530849G>A | NCBI36 |
| NG_008695.1:g.39530G>A , LRG_212:g.39530G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372759.4:c.1349G>A MANE Select | ENSP00000361845.3:p.Trp450Ter | |
| ENST00000674703.1:c.*1190G>A | ENSP00000501674.1:n.*1190G>A | |
| ENST00000675754.1:c.*1091G>A | ENSP00000502555.1:n.*1091G>A | |
| ENST00000675937.1:c.*594G>A | ENSP00000502683.1:n.*594G>A | |
| ENST00000372759.3:c.1349G>A | ENSP00000361845.3:p.Trp450Ter | |
| ENST00000474142.1:n.499G>A | ||
| NM_005857.4:c.1349G>A | NP_005848.2:p.Trp450Ter | |
| XM_011540486.1:c.1100G>A | XP_011538788.1:p.Trp367Ter | |
| XR_001736906.2:n.1736G>A | ||
| NM_005857.5:c.1349G>A MANE Select | NP_005848.2:p.Trp450Ter |