Linked Data
dbSNP Id:
rs776025469
ExAC:
14:21792882 A / G
gnomAD v2:
14-21792882-A-G
gnomAD v4:
14-21324723-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324723A>G , CM000676.2:g.21324723A>G | GRCh38 |
| NC_000014.8:g.21792882A>G , CM000676.1:g.21792882A>G | GRCh37 |
| NC_000014.7:g.20862722A>G | NCBI36 |
| NG_008933.1:g.41747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1868A>G MANE Select | ENSP00000382895.2:p.Gln623Arg | |
| ENST00000382933.8:c.688+2719A>G | ENSP00000372391.4:n.688+2719A>G | |
| ENST00000400017.6:c.1868A>G | ENSP00000382895.2:p.Gln623Arg | |
| ENST00000553500.5:n.326A>G | ||
| ENST00000553927.1:n.800A>G | ||
| ENST00000554303.1:c.254A>G | ENSP00000450426.1:p.Gln85Arg | |
| ENST00000555322.5:c.297-2A>G | ||
| ENST00000555489.5:c.210A>G | ENSP00000451044.1:n.210A>G | |
| ENST00000555587.5:c.293A>G | ENSP00000451262.1:p.Gln98Arg | |
| ENST00000556336.5:c.1681+2719A>G | ENSP00000450445.1:n.1681+2719A>G | |
| ENST00000557771.5:c.1754A>G | ENSP00000451219.1:p.Gln585Arg | |
| NM_020366.3:c.1868A>G | NP_065099.3:p.Gln623Arg | |
| XM_005267879.2:c.794A>G | XP_005267936.1:p.Gln265Arg | |
| XM_005267880.2:c.761A>G | XP_005267937.1:p.Gln254Arg | |
| XM_005267881.2:c.242A>G | XP_005267938.1:p.Gln81Arg | |
| XM_011536978.1:c.794A>G | XP_011535280.1:p.Gln265Arg | |
| XM_011536979.1:c.794A>G | XP_011535281.1:p.Gln265Arg | |
| XM_011536980.1:c.794A>G | XP_011535282.1:p.Gln265Arg | |
| XM_011536981.1:c.794A>G | XP_011535283.1:p.Gln265Arg | |
| XM_011536982.1:c.794A>G | XP_011535284.1:p.Gln265Arg | |
| XM_011536983.1:c.1835A>G | XP_011535285.1:p.Gln612Arg | |
| XM_005267881.3:c.242A>G | XP_005267938.1:p.Gln81Arg | |
| XM_017021473.1:c.794A>G | XP_016876962.1:p.Gln265Arg | |
| XM_024449663.1:c.794A>G | XP_024305431.1:p.Gln265Arg | |
| XM_024449664.1:c.794A>G | XP_024305432.1:p.Gln265Arg | |
| XM_024449665.1:c.794A>G | XP_024305433.1:p.Gln265Arg | |
| XM_024449666.1:c.794A>G | XP_024305434.1:p.Gln265Arg | |
| NM_001377523.1:c.688+2719A>G | NP_001364452.1:n.688+2719A>G | |
| NM_001377948.1:c.794A>G | NP_001364877.1:p.Gln265Arg | |
| NM_001377949.1:c.794A>G | NP_001364878.1:p.Gln265Arg | |
| NM_001377950.1:c.688+2719A>G | NP_001364879.1:n.688+2719A>G | |
| NM_001377951.1:c.190+2719A>G | NP_001364880.1:n.190+2719A>G | |
| NM_020366.4:c.1868A>G MANE Select | NP_065099.3:p.Gln623Arg |