Linked Data
ClinVar Variation Id:
402202
dbSNP Id:
rs376997378
ExAC:
18:31322948 G / A
gnomAD v2:
18-31322948-G-A
gnomAD v4:
18-33742984-G-A
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33742984G>A , CM000680.2:g.33742984G>A | GRCh38 |
| NC_000018.9:g.31322948G>A , CM000680.1:g.31322948G>A | GRCh37 |
| NC_000018.8:g.29576946G>A | NCBI36 |
| NG_055244.1:g.169408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.3139G>A | ENSP00000513003.1:p.Gly1047Arg | |
| ENST00000269197.12:c.3136G>A MANE Select | ENSP00000269197.4:p.Gly1046Arg | |
| ENST00000592288.6:c.*2260G>A | ENSP00000465053.1:n.*2260G>A | |
| ENST00000592541.6:c.*2795G>A | ENSP00000466655.2:n.*2795G>A | |
| ENST00000593195.6:c.3348G>A | ENSP00000466073.1:n.3348G>A | |
| ENST00000642541.1:c.2968G>A | ENSP00000493665.1:p.Gly990Arg | |
| ENST00000681521.1:c.3016G>A | ENSP00000506037.1:p.Gly1006Arg | |
| ENST00000269197.9:c.3136G>A | ENSP00000269197.4:p.Gly1046Arg | |
| ENST00000592288.5:c.*2260G>A | ENSP00000465053.1:n.*2260G>A | |
| NM_030632.1:c.3136G>A | NP_085135.1:p.Gly1046Arg | |
| XM_005258356.1:c.3139G>A | XP_005258413.1:p.Gly1047Arg | |
| XM_011526205.1:c.3112G>A | XP_011524507.1:p.Gly1038Arg | |
| XM_011526206.1:c.3058G>A | XP_011524508.1:p.Gly1020Arg | |
| XM_011526207.1:c.3058G>A | XP_011524509.1:p.Gly1020Arg | |
| XM_011526208.1:c.3019G>A | XP_011524510.1:p.Gly1007Arg | |
| XM_011526209.1:c.2968G>A | XP_011524511.1:p.Gly990Arg | |
| XM_011526210.1:c.2968G>A | XP_011524512.1:p.Gly990Arg | |
| XM_011526211.1:c.2968G>A | XP_011524513.1:p.Gly990Arg | |
| XM_011526212.1:c.2968G>A | XP_011524514.1:p.Gly990Arg | |
| XM_011526213.1:c.2968G>A | XP_011524515.1:p.Gly990Arg | |
| XM_011526214.1:c.2968G>A | XP_011524516.1:p.Gly990Arg | |
| XM_011526215.1:c.100G>A | XP_011524517.1:p.Gly34Arg | |
| NM_030632.2:c.3136G>A | NP_085135.1:p.Gly1046Arg | |
| XM_011526205.2:c.3112G>A | XP_011524507.1:p.Gly1038Arg | |
| XM_011526206.2:c.3058G>A | XP_011524508.1:p.Gly1020Arg | |
| XM_011526213.2:c.2968G>A | XP_011524515.1:p.Gly990Arg | |
| XM_017026012.1:c.3058G>A | XP_016881501.1:p.Gly1020Arg | |
| XM_017026013.1:c.2968G>A | XP_016881502.1:p.Gly990Arg | |
| XM_017026014.2:c.2968G>A | XP_016881503.1:p.Gly990Arg | |
| XM_024451269.1:c.2968G>A | XP_024307037.1:p.Gly990Arg | |
| NM_030632.3:c.3136G>A MANE Select | NP_085135.1:p.Gly1046Arg |