Linked Data
ClinVar Variation Id:
2170866
ClinVar RCV Id:
RCV003095624
dbSNP Id:
rs1419053503
gnomAD v2:
5-36975947-A-G
gnomAD v4:
5-36975845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36975845A>G , CM000667.2:g.36975845A>G | GRCh38 |
| NC_000005.9:g.36975947A>G , CM000667.1:g.36975947A>G | GRCh37 |
| NC_000005.8:g.37011704A>G | NCBI36 |
| NG_006987.1:g.103963A>G | |
| NG_006987.2:g.103963A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.938A>G MANE Select | ENSP00000282516.8:p.Asp313Gly | |
| ENST00000652901.1:c.938A>G | ENSP00000499536.1:p.Asp313Gly | |
| ENST00000282516.12:c.938A>G | ENSP00000282516.8:p.Asp313Gly | |
| ENST00000448238.2:c.938A>G | ENSP00000406266.2:p.Asp313Gly | |
| ENST00000504430.5:n.558A>G | ||
| ENST00000505998.5:n.917A>G | ||
| ENST00000621733.1:c.1-88733A>G | ENSP00000480694.1:n.1-88733A>G | |
| NM_015384.4:c.938A>G | NP_056199.2:p.Asp313Gly | |
| NM_133433.3:c.938A>G | NP_597677.2:p.Asp313Gly | |
| XM_005248280.2:c.938A>G | XP_005248337.1:p.Asp313Gly | |
| XM_005248282.3:c.194A>G | XP_005248339.2:p.Asp65Gly | |
| XM_006714467.2:c.938A>G | XP_006714530.1:p.Asp313Gly | |
| XM_006714468.1:c.938A>G | XP_006714531.1:p.Asp313Gly | |
| XM_011514014.1:c.938A>G | XP_011512316.1:p.Asp313Gly | |
| XM_011514015.1:c.938A>G | XP_011512317.1:p.Asp313Gly | |
| XM_005248280.3:c.938A>G | XP_005248337.1:p.Asp313Gly | |
| XM_005248282.5:c.278A>G | XP_005248339.3:p.Asp93Gly | |
| XM_006714468.2:c.938A>G | XP_006714531.1:p.Asp313Gly | |
| XM_017009329.1:c.938A>G | XP_016864818.1:p.Asp313Gly | |
| XM_017009331.1:c.938A>G | XP_016864820.1:p.Asp313Gly | |
| NM_133433.4:c.938A>G MANE Select | NP_597677.2:p.Asp313Gly | |
| NM_015384.5:c.938A>G | NP_056199.2:p.Asp313Gly |