Linked Data
ClinVar Variation Id:
932615
ClinVar RCV Id:
RCV001200513
dbSNP Id:
rs1284101914
gnomAD v3:
5-36985659-A-G
gnomAD v4:
5-36985659-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36985659A>G , CM000667.2:g.36985659A>G | GRCh38 |
| NC_000005.9:g.36985761A>G , CM000667.1:g.36985761A>G | GRCh37 |
| NC_000005.8:g.37021518A>G | NCBI36 |
| NG_006987.1:g.113777A>G | |
| NG_006987.2:g.113777A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.2479A>G MANE Select | ENSP00000282516.8:p.Arg827Gly | |
| ENST00000652901.1:c.2479A>G | ENSP00000499536.1:p.Arg827Gly | |
| ENST00000282516.12:c.2479A>G | ENSP00000282516.8:p.Arg827Gly | |
| ENST00000448238.2:c.2479A>G | ENSP00000406266.2:p.Arg827Gly | |
| ENST00000504430.5:n.2099A>G | ||
| ENST00000621733.1:c.1-78919A>G | ENSP00000480694.1:n.1-78919A>G | |
| NM_015384.4:c.2479A>G | NP_056199.2:p.Arg827Gly | |
| NM_133433.3:c.2479A>G | NP_597677.2:p.Arg827Gly | |
| XM_005248280.2:c.2479A>G | XP_005248337.1:p.Arg827Gly | |
| XM_005248282.3:c.1735A>G | XP_005248339.2:p.Arg579Gly | |
| XM_006714467.2:c.2479A>G | XP_006714530.1:p.Arg827Gly | |
| XM_006714468.1:c.2479A>G | XP_006714531.1:p.Arg827Gly | |
| XM_011514014.1:c.2479A>G | XP_011512316.1:p.Arg827Gly | |
| XM_011514015.1:c.2479A>G | XP_011512317.1:p.Arg827Gly | |
| XM_005248280.3:c.2479A>G | XP_005248337.1:p.Arg827Gly | |
| XM_005248282.5:c.1819A>G | XP_005248339.3:p.Arg607Gly | |
| XM_006714468.2:c.2479A>G | XP_006714531.1:p.Arg827Gly | |
| XM_017009329.1:c.2479A>G | XP_016864818.1:p.Arg827Gly | |
| XM_017009330.2:c.862A>G | XP_016864819.1:p.Arg288Gly | |
| XM_017009331.1:c.1495+9257A>G | XP_016864820.1:n.1495+9257A>G | |
| NM_133433.4:c.2479A>G MANE Select | NP_597677.2:p.Arg827Gly | |
| NM_015384.5:c.2479A>G | NP_056199.2:p.Arg827Gly |