Linked Data
ClinVar Variation Id:
2366705
ClinVar RCV Id:
RCV002990539
dbSNP Id:
rs1186916804
gnomAD v2:
8-144810499-G-A
gnomAD v3:
8-143728329-G-A
gnomAD v4:
8-143728329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728329G>A , CM000670.2:g.143728329G>A | GRCh38 |
| NC_000008.10:g.144810499G>A , CM000670.1:g.144810499G>A | GRCh37 |
| NC_000008.9:g.144882487G>A | NCBI36 |
| NG_016652.1:g.10416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.1132C>T MANE Select | ENSP00000373565.3:p.Arg378Trp | |
| ENST00000650760.1:c.1735C>T | ENSP00000499217.1:p.Arg579Trp | |
| ENST00000388913.3:c.1132C>T | ENSP00000373565.3:p.Arg378Trp | |
| ENST00000395103.2:c.312C>T | ||
| NM_198488.3:c.1132C>T | NP_940890.3:p.Arg378Trp | |
| XM_005250887.2:c.1189C>T | XP_005250944.1:p.Arg397Trp | |
| XM_005250888.2:c.1150C>T | XP_005250945.1:p.Arg384Trp | |
| XM_005250889.2:c.1132C>T | XP_005250946.1:p.Arg378Trp | |
| XM_011516980.1:c.1453C>T | XP_011515282.1:p.Arg485Trp | |
| XM_011516981.1:c.1300C>T | XP_011515283.1:p.Arg434Trp | |
| XM_005250887.3:c.1189C>T | XP_005250944.1:p.Arg397Trp | |
| XM_005250888.3:c.1150C>T | XP_005250945.1:p.Arg384Trp | |
| XM_005250889.3:c.1132C>T | XP_005250946.1:p.Arg378Trp | |
| XM_011516980.2:c.1735C>T | XP_011515282.2:p.Arg579Trp | |
| XM_011516981.2:c.1300C>T | XP_011515283.1:p.Arg434Trp | |
| XM_024447131.1:c.1132C>T | XP_024302899.1:p.Arg378Trp | |
| NM_198488.4:c.1132C>T | NP_940890.3:p.Arg378Trp | |
| NM_198488.5:c.1132C>T MANE Select | NP_940890.4:p.Arg378Trp |