Linked Data
ClinVar Variation Id:
476561
ClinVar RCV Id:
RCV000541124
dbSNP Id:
rs1553546042
gnomAD v4:
2-237340476-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340476T>A , CM000664.2:g.237340476T>A | GRCh38 |
| NC_000002.11:g.238249119T>A , CM000664.1:g.238249119T>A | GRCh37 |
| NC_000002.10:g.237913858T>A | NCBI36 |
| NG_008676.1:g.78732A>T , LRG_473:g.78732A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1085A>T | ||
| ENST00000353578.9:c.7822A>T | ENSP00000315873.4:p.Arg2608Trp | |
| ENST00000682957.1:c.443A>T | ||
| ENST00000684508.1:n.707A>T | ||
| ENST00000295550.9:c.8440A>T MANE Select | ENSP00000295550.4:p.Arg2814Trp | |
| ENST00000295550.8:c.8440A>T | ENSP00000295550.4:p.Arg2814Trp | |
| ENST00000347401.7:c.6616A>T | ENSP00000315609.4:p.Arg2206Trp | |
| ENST00000353578.8:c.7822A>T | ENSP00000315873.4:p.Arg2608Trp | |
| ENST00000409809.5:c.7822A>T | ENSP00000386844.1:p.Arg2608Trp | |
| ENST00000468792.1:n.127A>T | ||
| ENST00000472056.5:c.6619A>T | ENSP00000418285.1:p.Arg2207Trp | |
| ENST00000491769.1:n.4882A>T | ||
| NM_004369.3:c.8440A>T , LRG_473t1:c.8440A>T | NP_004360.2:p.Arg2814Trp | |
| NM_057166.4:c.6619A>T | NP_476507.3:p.Arg2207Trp | |
| NM_057167.3:c.7822A>T | NP_476508.2:p.Arg2608Trp | |
| XM_005246065.1:c.7840A>T | XP_005246122.1:p.Arg2614Trp | |
| XM_005246066.1:c.7219A>T | XP_005246123.1:p.Arg2407Trp | |
| XM_006712253.1:c.7939A>T | XP_006712316.1:p.Arg2647Trp | |
| XM_011510574.1:c.8437A>T | XP_011508876.1:p.Arg2813Trp | |
| XM_011510575.1:c.6034A>T | XP_011508877.1:p.Arg2012Trp | |
| XM_017003304.1:c.6034A>T | XP_016858793.1:p.Arg2012Trp | |
| XM_024452684.1:c.7219A>T | XP_024308452.1:p.Arg2407Trp | |
| NM_004369.4:c.8440A>T MANE Select | NP_004360.2:p.Arg2814Trp | |
| NM_057166.5:c.6619A>T | NP_476507.3:p.Arg2207Trp | |
| NM_057167.4:c.7822A>T | NP_476508.2:p.Arg2608Trp |