Linked Data
ClinVar Variation Id:
7167
dbSNP Id:
rs77902683
gnomAD v4:
7-117642568-G-T
PubMed:
PMID:1284468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642568G>T , CM000669.2:g.117642568G>T | GRCh38 |
| NC_000007.13:g.117282622G>T , CM000669.1:g.117282622G>T | GRCh37 |
| NC_000007.12:g.117069858G>T | NCBI36 |
| NG_016465.4:g.181785G>T , LRG_663:g.181785G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*57G>T | ENSP00000497673.2:n.*57G>T | |
| ENST00000647978.2:c.*3562G>T | ENSP00000497658.1:n.*3562G>T | |
| ENST00000649781.2:c.3665G>T | ENSP00000497203.1:p.Arg1222Met | |
| ENST00000685018.2:c.3848G>T | ENSP00000510194.2:p.Arg1283Met | |
| ENST00000687278.2:c.*501G>T | ENSP00000509593.2:n.*501G>T | |
| ENST00000699585.1:c.*57G>T | ENSP00000514456.1:n.*57G>T | |
| ENST00000699598.1:c.3848G>T | ENSP00000514467.1:p.Arg1283Met | |
| ENST00000699599.1:c.3848G>T | ENSP00000514468.1:p.Arg1283Met | |
| ENST00000699600.1:c.*509G>T | ENSP00000514469.1:n.*509G>T | |
| ENST00000699601.1:c.*2223G>T | ENSP00000514470.1:n.*2223G>T | |
| ENST00000699602.1:c.3842G>T | ENSP00000514471.1:p.Arg1281Met | |
| ENST00000699604.1:c.*3672G>T | ENSP00000514472.1:n.*3672G>T | |
| ENST00000699605.1:c.3422G>T | ENSP00000514473.1:p.Arg1141Met | |
| ENST00000685018.1:c.596G>T | ENSP00000510194.1:p.Arg199Met | |
| ENST00000687278.1:c.1635G>T | ENSP00000509593.1:n.1635G>T | |
| ENST00000689011.1:c.430G>T | ||
| ENST00000003084.11:c.3848G>T MANE Select | ENSP00000003084.6:p.Arg1283Met | |
| ENST00000647720.1:c.1298G>T | ||
| ENST00000649781.1:c.3665G>T | ENSP00000497203.1:p.Arg1222Met | |
| ENST00000003084.10:c.3848G>T | ENSP00000003084.6:p.Arg1283Met | |
| ENST00000426809.5:c.3758G>T | ENSP00000389119.1:p.Arg1253Met | |
| NM_000492.3:c.3848G>T , LRG_663t1:c.3848G>T | NP_000483.3:p.Arg1283Met | |
| XM_011515751.1:c.3938G>T | XP_011514053.1:p.Arg1313Met | |
| XM_011515752.1:c.3938G>T | XP_011514054.1:p.Arg1313Met | |
| XM_011515753.1:c.3605G>T | XP_011514055.1:p.Arg1202Met | |
| XM_011515754.1:c.3605G>T | XP_011514056.1:p.Arg1202Met | |
| NM_000492.4:c.3848G>T MANE Select | NP_000483.3:p.Arg1283Met |