Linked Data
ClinVar Variation Id:
53779
dbSNP Id:
rs121908765
ExAC:
7:117267719 G / A
gnomAD v2:
7-117267719-G-A
gnomAD v4:
7-117627665-G-A
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627665G>A , CM000669.2:g.117627665G>A | GRCh38 |
| NC_000007.13:g.117267719G>A , CM000669.1:g.117267719G>A | GRCh37 |
| NC_000007.12:g.117054955G>A | NCBI36 |
| NG_016465.4:g.166882G>A , LRG_663:g.166882G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+95G>A | ENSP00000497673.2:n.3517+95G>A | |
| ENST00000647978.2:c.*3326G>A | ENSP00000497658.1:n.*3326G>A | |
| ENST00000649781.2:c.3429G>A | ENSP00000497203.1:p.Trp1143Ter | |
| ENST00000685018.2:c.3612G>A | ENSP00000510194.2:p.Trp1204Ter | |
| ENST00000687278.2:c.*265G>A | ENSP00000509593.2:n.*265G>A | |
| ENST00000699585.1:c.3517+95G>A | ENSP00000514456.1:n.3517+95G>A | |
| ENST00000699598.1:c.3612G>A | ENSP00000514467.1:p.Trp1204Ter | |
| ENST00000699599.1:c.3612G>A | ENSP00000514468.1:p.Trp1204Ter | |
| ENST00000699600.1:c.*273G>A | ENSP00000514469.1:n.*273G>A | |
| ENST00000699601.1:c.*1987G>A | ENSP00000514470.1:n.*1987G>A | |
| ENST00000699602.1:c.3606G>A | ENSP00000514471.1:p.Trp1202Ter | |
| ENST00000699604.1:c.*3436G>A | ENSP00000514472.1:n.*3436G>A | |
| ENST00000699605.1:c.3186G>A | ENSP00000514473.1:p.Trp1062Ter | |
| ENST00000685018.1:c.360G>A | ENSP00000510194.1:p.Trp120Ter | |
| ENST00000687278.1:c.1399G>A | ENSP00000509593.1:n.1399G>A | |
| ENST00000689011.1:c.194G>A | ||
| ENST00000003084.11:c.3612G>A MANE Select | ENSP00000003084.6:p.Trp1204Ter | |
| ENST00000647720.1:c.1167+95G>A | ||
| ENST00000648260.1:c.2394G>A | ENSP00000497957.1:p.Trp798Ter | |
| ENST00000649406.1:c.3429G>A | ENSP00000497965.1:p.Trp1143Ter | |
| ENST00000649781.1:c.3429G>A | ENSP00000497203.1:p.Trp1143Ter | |
| ENST00000003084.10:c.3612G>A | ENSP00000003084.6:p.Trp1204Ter | |
| ENST00000426809.5:c.3522G>A | ENSP00000389119.1:p.Trp1174Ter | |
| ENST00000468795.1:c.437G>A | ||
| NM_000492.3:c.3612G>A , LRG_663t1:c.3612G>A | NP_000483.3:p.Trp1204Ter | |
| XM_011515751.1:c.3702G>A | XP_011514053.1:p.Trp1234Ter | |
| XM_011515752.1:c.3702G>A | XP_011514054.1:p.Trp1234Ter | |
| XM_011515753.1:c.3369G>A | XP_011514055.1:p.Trp1123Ter | |
| XM_011515754.1:c.3369G>A | XP_011514056.1:p.Trp1123Ter | |
| NM_000492.4:c.3612G>A MANE Select | NP_000483.3:p.Trp1204Ter |