Linked Data
ClinVar Variation Id:
2038619
ClinVar RCV Id:
RCV002907666
dbSNP Id:
rs778197822
ExAC:
14:21793098 A / G
gnomAD v2:
14-21793098-A-G
gnomAD v3:
14-21324939-A-G
gnomAD v4:
14-21324939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324939A>G , CM000676.2:g.21324939A>G | GRCh38 |
| NC_000014.8:g.21793098A>G , CM000676.1:g.21793098A>G | GRCh37 |
| NC_000014.7:g.20862938A>G | NCBI36 |
| NG_008933.1:g.41963A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2084A>G MANE Select | ENSP00000382895.2:p.Gln695Arg | |
| ENST00000382933.8:c.689-2684A>G | ENSP00000372391.4:n.689-2684A>G | |
| ENST00000400017.6:c.2084A>G | ENSP00000382895.2:p.Gln695Arg | |
| ENST00000553500.5:n.328+214A>G | ||
| ENST00000553927.1:n.1016A>G | ||
| ENST00000555322.5:c.511A>G | ||
| ENST00000555489.5:c.277A>G | ENSP00000451044.1:n.277A>G | |
| ENST00000555587.5:c.509A>G | ENSP00000451262.1:p.Gln170Arg | |
| ENST00000556336.5:c.1682-2684A>G | ENSP00000450445.1:n.1682-2684A>G | |
| ENST00000557771.5:c.1970A>G | ENSP00000451219.1:p.Gln657Arg | |
| NM_020366.3:c.2084A>G | NP_065099.3:p.Gln695Arg | |
| XM_005267879.2:c.1010A>G | XP_005267936.1:p.Gln337Arg | |
| XM_005267880.2:c.977A>G | XP_005267937.1:p.Gln326Arg | |
| XM_005267881.2:c.458A>G | XP_005267938.1:p.Gln153Arg | |
| XM_011536978.1:c.1010A>G | XP_011535280.1:p.Gln337Arg | |
| XM_011536979.1:c.797-3A>G | XP_011535281.1:n.797-3A>G | |
| XM_011536980.1:c.796+214A>G | XP_011535282.1:n.796+214A>G | |
| XM_011536981.1:c.1010A>G | XP_011535283.1:p.Gln337Arg | |
| XM_011536982.1:c.796+214A>G | XP_011535284.1:n.796+214A>G | |
| XM_011536983.1:c.2051A>G | XP_011535285.1:p.Gln684Arg | |
| XM_005267881.3:c.458A>G | XP_005267938.1:p.Gln153Arg | |
| XM_017021473.1:c.1010A>G | XP_016876962.1:p.Gln337Arg | |
| XM_024449663.1:c.1010A>G | XP_024305431.1:p.Gln337Arg | |
| XM_024449664.1:c.1010A>G | XP_024305432.1:p.Gln337Arg | |
| XM_024449665.1:c.796+214A>G | XP_024305433.1:n.796+214A>G | |
| XM_024449666.1:c.796+214A>G | XP_024305434.1:n.796+214A>G | |
| NM_001377523.1:c.689-2684A>G | NP_001364452.1:n.689-2684A>G | |
| NM_001377948.1:c.1010A>G | NP_001364877.1:p.Gln337Arg | |
| NM_001377949.1:c.796+214A>G | NP_001364878.1:n.796+214A>G | |
| NM_001377950.1:c.689-2684A>G | NP_001364879.1:n.689-2684A>G | |
| NM_001377951.1:c.191-2684A>G | NP_001364880.1:n.191-2684A>G | |
| NM_020366.4:c.2084A>G MANE Select | NP_065099.3:p.Gln695Arg |