Linked Data
ClinVar Variation Id:
419083
ClinVar RCV Id:
RCV000478944
dbSNP Id:
rs1064793630
gnomAD v3:
9-128540307-G-T
gnomAD v4:
9-128540307-G-T
PubMed:
PMID:28729373
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128540307G>T , CM000671.2:g.128540307G>T | GRCh38 |
| NC_000009.11:g.131302586G>T , CM000671.1:g.131302586G>T | GRCh37 |
| NC_000009.10:g.130342407G>T | NCBI36 |
| NG_012073.1:g.40616G>T , LRG_484:g.40616G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683044.1:c.*1068G>T | ENSP00000507095.1:n.*1068G>T | |
| ENST00000683288.1:c.*1996G>T | ENSP00000507477.1:n.*1996G>T | |
| ENST00000683748.1:c.2024G>T | ENSP00000507377.1:p.Gly675Val | |
| ENST00000683905.1:c.*673G>T | ENSP00000506960.1:n.*673G>T | |
| ENST00000684139.1:c.1532G>T | ENSP00000507295.1:p.Gly511Val | |
| ENST00000684210.1:n.1710G>T | ||
| ENST00000684314.1:c.1892G>T | ENSP00000507700.1:p.Gly631Val | |
| ENST00000684331.1:c.1997G>T | ENSP00000507431.1:p.Gly666Val | |
| ENST00000684463.1:n.635G>T | ||
| ENST00000684646.1:c.1784G>T | ENSP00000507723.1:p.Gly595Val | |
| ENST00000309971.9:c.1997G>T MANE Select | ENSP00000308622.5:p.Gly666Val | |
| ENST00000309971.8:c.1997G>T | ENSP00000308622.4:p.Gly666Val | |
| NM_001003722.1:c.1997G>T , LRG_484t1:c.1997G>T | NP_001003722.1:p.Gly666Val | |
| XM_006717059.2:c.2033G>T | XP_006717122.1:p.Gly678Val | |
| XM_006717060.2:c.2006G>T | XP_006717123.1:p.Gly669Val | |
| XM_011518549.1:c.2033G>T | XP_011516851.1:p.Gly678Val | |
| XM_011518550.1:c.2033G>T | XP_011516852.1:p.Gly678Val | |
| XM_011518551.1:c.2024G>T | XP_011516853.1:p.Gly675Val | |
| XM_011518552.1:c.1274G>T | XP_011516854.1:p.Gly425Val | |
| XR_242681.3:n.100+3072C>A | ||
| XR_428600.2:n.124+663C>A | ||
| XM_006717059.3:c.2033G>T | XP_006717122.1:p.Gly678Val | |
| XM_006717060.3:c.2006G>T | XP_006717123.1:p.Gly669Val | |
| XM_011518551.2:c.2024G>T | XP_011516853.1:p.Gly675Val | |
| XM_024447519.1:c.2006G>T | XP_024303287.1:p.Gly669Val | |
| XR_428600.3:n.126+663C>A | ||
| NM_001003722.2:c.1997G>T MANE Select | NP_001003722.1:p.Gly666Val |