Linked Data
ClinVar Variation Id:
167358
dbSNP Id:
rs727504045
ExAC:
5:36953840 G / A
gnomAD v2:
5-36953840-G-A
gnomAD v3:
5-36953738-G-A
gnomAD v4:
5-36953738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36953738G>A , CM000667.2:g.36953738G>A | GRCh38 |
| NC_000005.9:g.36953840G>A , CM000667.1:g.36953840G>A | GRCh37 |
| NC_000005.8:g.36989597G>A | NCBI36 |
| NG_006987.1:g.81856G>A | |
| NG_006987.2:g.81856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.42G>A MANE Select | ENSP00000282516.8:p.Ala14= | |
| ENST00000652901.1:c.42G>A | ENSP00000499536.1:p.Ala14= | |
| ENST00000282516.12:c.42G>A | ENSP00000282516.8:p.Ala14= | |
| ENST00000448238.2:c.42G>A | ENSP00000406266.2:p.Ala14= | |
| ENST00000621733.1:c.-1+76716G>A | ENSP00000480694.1:n.-1+76716G>A | |
| NM_015384.4:c.42G>A | NP_056199.2:p.Ala14= | |
| NM_133433.3:c.42G>A | NP_597677.2:p.Ala14= | |
| XM_005248280.2:c.42G>A | XP_005248337.1:p.Ala14= | |
| XM_006714467.2:c.42G>A | XP_006714530.1:p.Ala14= | |
| XM_006714468.1:c.42G>A | XP_006714531.1:p.Ala14= | |
| XM_011514014.1:c.42G>A | XP_011512316.1:p.Ala14= | |
| XM_011514015.1:c.42G>A | XP_011512317.1:p.Ala14= | |
| XM_005248280.3:c.42G>A | XP_005248337.1:p.Ala14= | |
| XM_006714468.2:c.42G>A | XP_006714531.1:p.Ala14= | |
| XM_017009329.1:c.42G>A | XP_016864818.1:p.Ala14= | |
| XM_017009331.1:c.42G>A | XP_016864820.1:p.Ala14= | |
| NM_133433.4:c.42G>A MANE Select | NP_597677.2:p.Ala14= | |
| NM_015384.5:c.42G>A | NP_056199.2:p.Ala14= |