Linked Data
ClinVar Variation Id:
56351
ClinVar RCV Id:
RCV000049764
dbSNP Id:
rs386833799
gnomAD v2:
14-23243650-G-T
gnomAD v4:
14-22774441-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22774441G>T , CM000676.2:g.22774441G>T | GRCh38 |
| NC_000014.8:g.23243650G>T , CM000676.1:g.23243650G>T | GRCh37 |
| NC_000014.7:g.22313490G>T | NCBI36 |
| NG_012851.2:g.60380C>A , LRG_695:g.60380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.1158C>A | ENSP00000452551.2:p.Ser386Arg | |
| ENST00000698939.1:c.*224C>A | ENSP00000514047.1:n.*224C>A | |
| ENST00000698940.1:n.220C>A | ||
| ENST00000397532.9:c.1158C>A | ENSP00000380666.4:p.Ser386Arg | |
| ENST00000674313.1:c.1158C>A MANE Select | ENSP00000501493.1:p.Ser386Arg | |
| ENST00000285850.11:c.1158C>A | ENSP00000285850.7:p.Ser386Arg | |
| ENST00000397528.8:c.1158C>A | ENSP00000380662.4:p.Ser386Arg | |
| ENST00000397529.6:c.1158C>A | ENSP00000380663.2:p.Ser386Arg | |
| ENST00000397532.7:c.1158C>A | ENSP00000380666.3:p.Ser386Arg | |
| ENST00000554061.5:n.829C>A | ||
| ENST00000554517.5:c.360C>A | ENSP00000452083.1:p.Ser120Arg | |
| ENST00000555678.1:n.419C>A | ||
| ENST00000555702.5:c.1158C>A | ENSP00000451881.1:p.Ser386Arg | |
| ENST00000556287.5:c.*121C>A | ENSP00000450715.1:n.*121C>A | |
| ENST00000556350.1:c.240-325C>A | ||
| NM_001126105.2:c.1158C>A , LRG_695t1:c.1158C>A | NP_001119577.1:p.Ser386Arg | |
| NM_001126106.2:c.1158C>A , LRG_695t2:c.1158C>A | NP_001119578.1:p.Ser386Arg | |
| NR_040448.1:n.1773C>A | ||
| XM_006720302.1:c.1158C>A | XP_006720365.1:p.Ser386Arg | |
| XM_011537298.1:c.1158C>A | XP_011535600.1:p.Ser386Arg | |
| XM_011537299.1:c.1158C>A | XP_011535601.1:p.Ser386Arg | |
| XM_006720302.2:c.1158C>A | XP_006720365.1:p.Ser386Arg | |
| XM_011537298.3:c.1158C>A | XP_011535600.1:p.Ser386Arg | |
| NM_001126105.3:c.1158C>A | NP_001119577.1:p.Ser386Arg | |
| NM_001126106.4:c.1158C>A | NP_001119578.1:p.Ser386Arg | |
| NM_003982.4:c.1158C>A MANE Select | NP_003973.3:p.Ser386Arg |