Linked Data
ClinVar Variation Id:
403474
dbSNP Id:
rs34708521
ExAC:
5:35670303 G / A
gnomAD v2:
5-35670303-G-A
gnomAD v3:
5-35670201-G-A
gnomAD v4:
5-35670201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35670201G>A , CM000667.2:g.35670201G>A | GRCh38 |
| NC_000005.9:g.35670303G>A , CM000667.1:g.35670303G>A | GRCh37 |
| NC_000005.8:g.35706060G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356031.8:c.1498G>A MANE Select | ENSP00000348314.3:p.Asp500Asn | |
| ENST00000637569.1:c.1498G>A | ENSP00000490886.1:p.Asp500Asn | |
| ENST00000282469.10:c.1498G>A | ENSP00000282469.6:p.Asp500Asn | |
| ENST00000356031.7:c.1498G>A | ENSP00000348314.3:p.Asp500Asn | |
| ENST00000440995.6:c.1498G>A | ENSP00000412125.2:p.Asp500Asn | |
| ENST00000503074.1:n.489G>A | ||
| ENST00000509059.5:c.1498G>A | ENSP00000421593.1:p.Asp500Asn | |
| NM_024867.3:c.1498G>A | NP_079143.3:p.Asp500Asn | |
| NM_144722.3:c.1498G>A | NP_653323.1:p.Asp500Asn | |
| XM_005248376.3:c.1498G>A | XP_005248433.1:p.Asp500Asn | |
| XM_005248377.2:c.1498G>A | XP_005248434.1:p.Asp500Asn | |
| XM_005248378.2:c.1498G>A | XP_005248435.1:p.Asp500Asn | |
| XM_006714501.2:c.1498G>A | XP_006714564.1:p.Asp500Asn | |
| XM_011514135.1:c.1498G>A | XP_011512437.1:p.Asp500Asn | |
| XM_011514136.1:c.1498G>A | XP_011512438.1:p.Asp500Asn | |
| XM_011514137.1:c.1498G>A | XP_011512439.1:p.Asp500Asn | |
| XM_011514138.1:c.1498G>A | XP_011512440.1:p.Asp500Asn | |
| XM_011514139.1:c.1498G>A | XP_011512441.1:p.Asp500Asn | |
| XM_011514140.1:c.1327G>A | XP_011512442.1:p.Asp443Asn | |
| XM_011514141.1:c.1072G>A | XP_011512443.1:p.Asp358Asn | |
| XM_011514142.1:c.1498G>A | XP_011512444.1:p.Asp500Asn | |
| XR_925655.1:n.1714G>A | ||
| XR_925656.1:n.1713G>A | ||
| XM_005248376.4:c.1498G>A | XP_005248433.1:p.Asp500Asn | |
| XM_005248377.4:c.1498G>A | XP_005248434.1:p.Asp500Asn | |
| XM_005248378.4:c.1498G>A | XP_005248435.1:p.Asp500Asn | |
| XM_011514135.3:c.1498G>A | XP_011512437.1:p.Asp500Asn | |
| XM_011514136.3:c.1498G>A | XP_011512438.1:p.Asp500Asn | |
| XM_011514137.3:c.1498G>A | XP_011512439.1:p.Asp500Asn | |
| XM_011514138.3:c.1498G>A | XP_011512440.1:p.Asp500Asn | |
| XM_011514139.3:c.1498G>A | XP_011512441.1:p.Asp500Asn | |
| XM_011514140.2:c.1327G>A | XP_011512442.1:p.Asp443Asn | |
| XM_011514141.3:c.1072G>A | XP_011512443.1:p.Asp358Asn | |
| XM_017009880.2:c.1327G>A | XP_016865369.1:p.Asp443Asn | |
| XM_017009881.2:c.1072G>A | XP_016865370.1:p.Asp358Asn | |
| XM_017009882.2:c.1498G>A | XP_016865371.1:p.Asp500Asn | |
| XM_024446219.1:c.1327G>A | XP_024301987.1:p.Asp443Asn | |
| XR_001742273.2:n.1601G>A | ||
| XR_925655.2:n.1601G>A | ||
| XR_925656.3:n.1601G>A | ||
| NM_024867.4:c.1498G>A MANE Select | NP_079143.3:p.Asp500Asn | |
| NM_144722.4:c.1498G>A | NP_653323.1:p.Asp500Asn |