Linked Data
ClinVar Variation Id:
312789
dbSNP Id:
rs184853466
ExAC:
14:21788270 A / G
gnomAD v2:
14-21788270-A-G
gnomAD v3:
14-21320111-A-G
gnomAD v4:
14-21320111-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21320111A>G , CM000676.2:g.21320111A>G | GRCh38 |
| NC_000014.8:g.21788270A>G , CM000676.1:g.21788270A>G | GRCh37 |
| NC_000014.7:g.20858110A>G | NCBI36 |
| NG_008933.1:g.37135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1401A>G MANE Select | ENSP00000382895.2:p.Gln467= | |
| ENST00000382933.8:c.327A>G | ENSP00000372391.4:p.Gln109= | |
| ENST00000400017.6:c.1401A>G | ENSP00000382895.2:p.Gln467= | |
| ENST00000556336.5:c.1320A>G | ENSP00000450445.1:p.Gln440= | |
| ENST00000557351.1:c.402A>G | ENSP00000452215.1:p.Gln134= | |
| ENST00000557771.5:c.1320A>G | ENSP00000451219.1:p.Gln440= | |
| NM_020366.3:c.1401A>G | NP_065099.3:p.Gln467= | |
| XM_005267879.2:c.327A>G | XP_005267936.1:p.Gln109= | |
| XM_005267880.2:c.327A>G | XP_005267937.1:p.Gln109= | |
| XM_011536978.1:c.327A>G | XP_011535280.1:p.Gln109= | |
| XM_011536979.1:c.327A>G | XP_011535281.1:p.Gln109= | |
| XM_011536980.1:c.327A>G | XP_011535282.1:p.Gln109= | |
| XM_011536981.1:c.327A>G | XP_011535283.1:p.Gln109= | |
| XM_011536982.1:c.327A>G | XP_011535284.1:p.Gln109= | |
| XM_011536983.1:c.1368A>G | XP_011535285.1:p.Gln456= | |
| XM_017021473.1:c.327A>G | XP_016876962.1:p.Gln109= | |
| XM_024449663.1:c.327A>G | XP_024305431.1:p.Gln109= | |
| XM_024449664.1:c.327A>G | XP_024305432.1:p.Gln109= | |
| XM_024449665.1:c.327A>G | XP_024305433.1:p.Gln109= | |
| XM_024449666.1:c.327A>G | XP_024305434.1:p.Gln109= | |
| NM_001377523.1:c.327A>G | NP_001364452.1:p.Gln109= | |
| NM_001377948.1:c.327A>G | NP_001364877.1:p.Gln109= | |
| NM_001377949.1:c.327A>G | NP_001364878.1:p.Gln109= | |
| NM_001377950.1:c.327A>G | NP_001364879.1:p.Gln109= | |
| NM_020366.4:c.1401A>G MANE Select | NP_065099.3:p.Gln467= |