Linked Data
ClinVar Variation Id:
353381
ClinVar RCV Id:
RCV000359993
dbSNP Id:
rs780708835
ExAC:
5:37016195 C / A
gnomAD v2:
5-37016195-C-A
gnomAD v4:
5-37016093-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37016093C>A , CM000667.2:g.37016093C>A | GRCh38 |
| NC_000005.9:g.37016195C>A , CM000667.1:g.37016195C>A | GRCh37 |
| NC_000005.8:g.37051952C>A | NCBI36 |
| NG_006987.1:g.144211C>A | |
| NG_006987.2:g.144211C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.4699C>A MANE Select | ENSP00000282516.8:p.Gln1567Lys | |
| ENST00000652901.1:c.4699C>A | ENSP00000499536.1:p.Gln1567Lys | |
| ENST00000282516.12:c.4699C>A | ENSP00000282516.8:p.Gln1567Lys | |
| ENST00000448238.2:c.4699C>A | ENSP00000406266.2:p.Gln1567Lys | |
| ENST00000621733.1:c.1-48485C>A | ENSP00000480694.1:n.1-48485C>A | |
| NM_015384.4:c.4699C>A | NP_056199.2:p.Gln1567Lys | |
| NM_133433.3:c.4699C>A | NP_597677.2:p.Gln1567Lys | |
| XM_005248280.2:c.4699C>A | XP_005248337.1:p.Gln1567Lys | |
| XM_005248282.3:c.3955C>A | XP_005248339.2:p.Gln1319Lys | |
| XM_006714467.2:c.4699C>A | XP_006714530.1:p.Gln1567Lys | |
| XM_006714468.1:c.4501C>A | XP_006714531.1:p.Gln1501Lys | |
| XM_011514014.1:c.4318C>A | XP_011512316.1:p.Gln1440Lys | |
| XM_011514015.1:c.4699C>A | XP_011512317.1:p.Gln1567Lys | |
| XM_005248280.3:c.4699C>A | XP_005248337.1:p.Gln1567Lys | |
| XM_005248282.5:c.4039C>A | XP_005248339.3:p.Gln1347Lys | |
| XM_006714468.2:c.4501C>A | XP_006714531.1:p.Gln1501Lys | |
| XM_017009329.1:c.4699C>A | XP_016864818.1:p.Gln1567Lys | |
| XM_017009330.2:c.3082C>A | XP_016864819.1:p.Gln1028Lys | |
| XM_017009331.1:c.3073C>A | XP_016864820.1:p.Gln1025Lys | |
| NM_133433.4:c.4699C>A MANE Select | NP_597677.2:p.Gln1567Lys | |
| NM_015384.5:c.4699C>A | NP_056199.2:p.Gln1567Lys |