Linked Data
ClinVar Variation Id:
214885
ClinVar RCV Id:
RCV001526454
dbSNP Id:
rs200401432
ExAC:
14:32031331 G / A
gnomAD v2:
14-32031331-G-A
gnomAD v3:
14-31562125-G-A
gnomAD v4:
14-31562125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31562125G>A , CM000676.2:g.31562125G>A | GRCh38 |
| NC_000014.8:g.32031331G>A , CM000676.1:g.32031331G>A | GRCh37 |
| NC_000014.7:g.31101082G>A | NCBI36 |
| NG_028349.1:g.5741G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281081.12:c.166G>A MANE Select | ENSP00000281081.7:p.Gly56Arg | |
| ENST00000281081.11:c.166G>A | ENSP00000281081.7:p.Gly56Arg | |
| ENST00000547839.5:c.166G>A | ENSP00000449918.1:p.Gly56Arg | |
| ENST00000548937.5:n.170G>A | ||
| ENST00000549838.5:c.130G>A | ENSP00000447658.1:p.Gly44Arg | |
| ENST00000550005.1:c.91G>A | ENSP00000446511.1:p.Gly31Arg | |
| ENST00000550355.1:n.115G>A | ||
| ENST00000550649.5:c.166G>A | ENSP00000447618.1:p.Gly56Arg | |
| ENST00000551314.1:c.10G>A | ENSP00000447234.1:p.Gly4Arg | |
| ENST00000552489.5:c.166G>A | ENSP00000447316.1:p.Gly56Arg | |
| NM_025152.2:c.166G>A | NP_079428.2:p.Gly56Arg | |
| NR_120408.1:n.221G>A | ||
| XM_005268099.3:c.166G>A | XP_005268156.1:p.Gly56Arg | |
| XM_011537182.1:c.-290G>A | XP_011535484.1:n.-290G>A | |
| XM_011537183.1:c.166G>A | XP_011535485.1:p.Gly56Arg | |
| XM_011537182.2:c.-290G>A | XP_011535484.1:n.-290G>A | |
| XM_011537183.2:c.166G>A | XP_011535485.1:p.Gly56Arg | |
| XM_017021664.1:c.166G>A | XP_016877153.1:p.Gly56Arg | |
| XM_017021665.2:c.166G>A | XP_016877154.1:p.Gly56Arg | |
| XM_017021666.1:c.166G>A | XP_016877155.1:p.Gly56Arg | |
| XM_017021667.1:c.-218G>A | XP_016877156.1:n.-218G>A | |
| NM_025152.3:c.166G>A MANE Select | NP_079428.2:p.Gly56Arg | |
| NR_120408.2:n.202G>A |