Linked Data
ClinVar Variation Id:
426739
dbSNP Id:
rs146720775
ExAC:
14:23244749 C / T
gnomAD v2:
14-23244749-C-T
gnomAD v3:
14-22775540-C-T
gnomAD v4:
14-22775540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22775540C>T , CM000676.2:g.22775540C>T | GRCh38 |
| NC_000014.8:g.23244749C>T , CM000676.1:g.23244749C>T | GRCh37 |
| NC_000014.7:g.22314589C>T | NCBI36 |
| NG_012851.2:g.59281G>A , LRG_695:g.59281G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.999G>A | ENSP00000452551.2:p.Arg333= | |
| ENST00000698939.1:c.*65G>A | ENSP00000514047.1:n.*65G>A | |
| ENST00000698940.1:n.61G>A | ||
| ENST00000397532.9:c.999G>A | ENSP00000380666.4:p.Arg333= | |
| ENST00000674313.1:c.999G>A MANE Select | ENSP00000501493.1:p.Arg333= | |
| ENST00000285850.11:c.999G>A | ENSP00000285850.7:p.Arg333= | |
| ENST00000397528.8:c.999G>A | ENSP00000380662.4:p.Arg333= | |
| ENST00000397529.6:c.999G>A | ENSP00000380663.2:p.Arg333= | |
| ENST00000397532.7:c.999G>A | ENSP00000380666.3:p.Arg333= | |
| ENST00000554061.5:n.670G>A | ||
| ENST00000554517.5:c.201G>A | ENSP00000452083.1:p.Arg67= | |
| ENST00000555678.1:n.260G>A | ||
| ENST00000555702.5:c.999G>A | ENSP00000451881.1:p.Arg333= | |
| ENST00000556287.5:c.895G>A | ENSP00000450715.1:p.Ala299Thr | |
| ENST00000556350.1:c.143G>A | ||
| NM_001126105.2:c.999G>A , LRG_695t1:c.999G>A | NP_001119577.1:p.Arg333= | |
| NM_001126106.2:c.999G>A , LRG_695t2:c.999G>A | NP_001119578.1:p.Arg333= | |
| NR_040448.1:n.1614G>A | ||
| XM_006720302.1:c.999G>A | XP_006720365.1:p.Arg333= | |
| XM_011537298.1:c.999G>A | XP_011535600.1:p.Arg333= | |
| XM_011537299.1:c.999G>A | XP_011535601.1:p.Arg333= | |
| XM_006720302.2:c.999G>A | XP_006720365.1:p.Arg333= | |
| XM_011537298.3:c.999G>A | XP_011535600.1:p.Arg333= | |
| NM_001126105.3:c.999G>A | NP_001119577.1:p.Arg333= | |
| NM_001126106.4:c.999G>A | NP_001119578.1:p.Arg333= | |
| NM_003982.4:c.999G>A MANE Select | NP_003973.3:p.Arg333= |