Linked Data
ClinVar Variation Id:
1359227
ClinVar RCV Id:
RCV001904361
dbSNP Id:
rs781216305
ExAC:
2:189858139 G / A
gnomAD v2:
2-189858139-G-A
gnomAD v4:
2-188993413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993413G>A , CM000664.2:g.188993413G>A | GRCh38 |
| NC_000002.11:g.189858139G>A , CM000664.1:g.189858139G>A | GRCh37 |
| NC_000002.10:g.189566384G>A | NCBI36 |
| NG_007404.1:g.24041G>A , LRG_3:g.24041G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1050+473G>A | ENSP00000415346.2:n.1050+473G>A | |
| ENST00000304636.9:c.1103G>A MANE Select | ENSP00000304408.4:p.Arg368Lys | |
| ENST00000304636.7:c.1103G>A | ENSP00000304408.3:p.Arg368Lys | |
| ENST00000317840.9:c.1103G>A | ENSP00000315243.6:p.Arg368Lys | |
| ENST00000450867.1:c.148+473G>A | ||
| NM_000090.3:c.1103G>A , LRG_3t1:c.1103G>A | NP_000081.1:p.Arg368Lys | |
| NM_000090.4:c.1103G>A MANE Select | NP_000081.2:p.Arg368Lys |