Linked Data
ClinVar Variation Id:
3004351
ClinVar RCV Id:
RCV003865990
dbSNP Id:
rs1746075684
gnomAD v3:
5-36995784-A-C
gnomAD v4:
5-36995784-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36995784A>C , CM000667.2:g.36995784A>C | GRCh38 |
| NC_000005.9:g.36995886A>C , CM000667.1:g.36995886A>C | GRCh37 |
| NC_000005.8:g.37031643A>C | NCBI36 |
| NG_006987.1:g.123902A>C | |
| NG_006987.2:g.123902A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.3284A>C MANE Select | ENSP00000282516.8:p.Asp1095Ala | |
| ENST00000652901.1:c.3284A>C | ENSP00000499536.1:p.Asp1095Ala | |
| ENST00000282516.12:c.3284A>C | ENSP00000282516.8:p.Asp1095Ala | |
| ENST00000448238.2:c.3284A>C | ENSP00000406266.2:p.Asp1095Ala | |
| ENST00000503274.1:n.635A>C | ||
| ENST00000504430.5:n.2904A>C | ||
| ENST00000509429.1:n.35A>C | ||
| ENST00000621733.1:c.1-68794A>C | ENSP00000480694.1:n.1-68794A>C | |
| NM_015384.4:c.3284A>C | NP_056199.2:p.Asp1095Ala | |
| NM_133433.3:c.3284A>C | NP_597677.2:p.Asp1095Ala | |
| XM_005248280.2:c.3284A>C | XP_005248337.1:p.Asp1095Ala | |
| XM_005248282.3:c.2540A>C | XP_005248339.2:p.Asp847Ala | |
| XM_006714467.2:c.3284A>C | XP_006714530.1:p.Asp1095Ala | |
| XM_006714468.1:c.3284A>C | XP_006714531.1:p.Asp1095Ala | |
| XM_011514014.1:c.3122-5033A>C | XP_011512316.1:n.3122-5033A>C | |
| XM_011514015.1:c.3284A>C | XP_011512317.1:p.Asp1095Ala | |
| XM_005248280.3:c.3284A>C | XP_005248337.1:p.Asp1095Ala | |
| XM_005248282.5:c.2624A>C | XP_005248339.3:p.Asp875Ala | |
| XM_006714468.2:c.3284A>C | XP_006714531.1:p.Asp1095Ala | |
| XM_017009329.1:c.3284A>C | XP_016864818.1:p.Asp1095Ala | |
| XM_017009330.2:c.1667A>C | XP_016864819.1:p.Asp556Ala | |
| XM_017009331.1:c.1658A>C | XP_016864820.1:p.Asp553Ala | |
| NM_133433.4:c.3284A>C MANE Select | NP_597677.2:p.Asp1095Ala | |
| NM_015384.5:c.3284A>C | NP_056199.2:p.Asp1095Ala |