Linked Data
ClinVar Variation Id:
14842
ClinVar RCV Id:
RCV000015967
dbSNP Id:
rs104893893
gnomAD v3:
5-35873593-G-A
gnomAD v4:
5-35873593-G-A
PubMed:
PMID:9843216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873593G>A , CM000667.2:g.35873593G>A | GRCh38 |
| NC_000005.9:g.35873695G>A , CM000667.1:g.35873695G>A | GRCh37 |
| NC_000005.8:g.35909452G>A | NCBI36 |
| NG_009567.1:g.21705G>A , LRG_74:g.21705G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.651G>A MANE Select | ENSP00000306157.3:p.Trp217Ter | |
| ENST00000303115.7:c.651G>A | ENSP00000306157.3:p.Trp217Ter | |
| ENST00000505093.1:c.60G>A | ENSP00000426069.1:p.Trp20Ter | |
| ENST00000506850.5:c.651G>A | ENSP00000421207.1:p.Trp217Ter | |
| ENST00000509668.1:n.393G>A | ||
| ENST00000514217.5:c.538-1919G>A | ENSP00000427688.1:n.538-1919G>A | |
| NM_002185.3:c.651G>A | NP_002176.2:p.Trp217Ter | |
| NR_120485.1:n.641-1919G>A | ||
| XM_005248299.2:c.651G>A | XP_005248356.1:p.Trp217Ter | |
| XM_005248300.1:c.651G>A | XP_005248357.1:p.Trp217Ter | |
| XM_011514037.1:c.651G>A | XP_011512339.1:p.Trp217Ter | |
| NM_002185.4:c.651G>A | NP_002176.2:p.Trp217Ter | |
| NR_120485.2:n.667-1919G>A | ||
| XM_005248299.4:c.651G>A | XP_005248356.1:p.Trp217Ter | |
| NM_002185.5:c.651G>A MANE Select | NP_002176.2:p.Trp217Ter | |
| NR_120485.3:n.625-1919G>A |