Linked Data
ClinVar Variation Id:
1149753
dbSNP Id:
rs372621624
ExAC:
4:81122596 G / A
gnomAD v2:
4-81122596-G-A
gnomAD v3:
4-80201442-G-A
gnomAD v4:
4-80201442-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80201442G>A , CM000666.2:g.80201442G>A | GRCh38 |
| NC_000004.11:g.81122596G>A , CM000666.1:g.81122596G>A | GRCh37 |
| NC_000004.10:g.81341620G>A | NCBI36 |
| NG_046725.1:g.21173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.372G>A MANE Select | ENSP00000406998.2:p.Glu124= | |
| ENST00000339711.8:c.372G>A | ENSP00000339764.4:p.Glu124= | |
| ENST00000415738.2:c.372G>A | ENSP00000406998.2:p.Glu124= | |
| ENST00000504452.5:c.372G>A | ENSP00000423985.1:p.Glu124= | |
| ENST00000515013.5:c.372G>A | ENSP00000425149.1:p.Glu124= | |
| NM_001099403.1:c.372G>A | NP_001092873.1:p.Glu124= | |
| NM_020226.3:c.372G>A | NP_064611.3:p.Glu124= | |
| XM_005263144.2:c.372G>A | XP_005263201.1:p.Glu124= | |
| XM_005263145.2:c.372G>A | XP_005263202.1:p.Glu124= | |
| XM_005263146.3:c.372G>A | XP_005263203.1:p.Glu124= | |
| XM_011532133.1:c.1212G>A | XP_011530435.1:p.Glu404= | |
| XM_011532134.1:c.1212G>A | XP_011530436.1:p.Glu404= | |
| XM_011532135.1:c.1071G>A | XP_011530437.1:p.Glu357= | |
| XM_011532136.1:c.924G>A | XP_011530438.1:p.Glu308= | |
| XM_011532137.1:c.924G>A | XP_011530439.1:p.Glu308= | |
| XM_011532138.1:c.924G>A | XP_011530440.1:p.Glu308= | |
| XM_011532139.1:c.924G>A | XP_011530441.1:p.Glu308= | |
| XM_011532140.1:c.924G>A | XP_011530442.1:p.Glu308= | |
| XM_011532141.1:c.786G>A | XP_011530443.1:p.Glu262= | |
| XM_011532142.1:c.765G>A | XP_011530444.1:p.Glu255= | |
| XM_005263146.4:c.372G>A | XP_005263203.1:p.Glu124= | |
| XM_011532133.2:c.1212G>A | XP_011530435.1:p.Glu404= | |
| XM_011532135.2:c.1071G>A | XP_011530437.1:p.Glu357= | |
| XM_011532140.2:c.924G>A | XP_011530442.1:p.Glu308= | |
| XM_011532141.3:c.786G>A | XP_011530443.1:p.Glu262= | |
| XM_017008468.1:c.924G>A | XP_016863957.1:p.Glu308= | |
| XM_017008469.1:c.1008G>A | XP_016863958.1:p.Glu336= | |
| XM_017008470.1:c.924G>A | XP_016863959.1:p.Glu308= | |
| NM_001099403.2:c.372G>A MANE Select | NP_001092873.1:p.Glu124= | |
| NM_020226.4:c.372G>A | NP_064611.3:p.Glu124= |