Linked Data
ClinVar Variation Id:
39248
dbSNP Id:
rs199476198
ExAC:
4:187126386 G / A
gnomAD v2:
4-187126386-G-A
gnomAD v4:
4-186205232-G-A
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205232G>A , CM000666.2:g.186205232G>A | GRCh38 |
| NC_000004.11:g.187126386G>A , CM000666.1:g.187126386G>A | GRCh37 |
| NC_000004.10:g.187363380G>A | NCBI36 |
| NG_007965.1:g.18713G>A | |
| NG_012095.2:g.1254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1020G>A MANE Select | ENSP00000368079.4:p.Trp340Ter | |
| ENST00000378802.4:c.1020G>A | ENSP00000368079.4:p.Trp340Ter | |
| ENST00000502665.1:n.255G>A | ||
| ENST00000507209.5:n.5718G>A | ||
| ENST00000513354.5:n.110G>A | ||
| NM_207352.3:c.1020G>A | NP_997235.3:p.Trp340Ter | |
| XM_005262935.2:c.1020G>A | XP_005262992.1:p.Trp340Ter | |
| XM_006714184.2:c.624G>A | XP_006714247.1:p.Trp208Ter | |
| XM_005262935.4:c.1020G>A | XP_005262992.1:p.Trp340Ter | |
| XM_017008037.1:c.624G>A | XP_016863526.1:p.Trp208Ter | |
| NM_207352.4:c.1020G>A MANE Select | NP_997235.3:p.Trp340Ter |