Linked Data
dbSNP Id:
rs756589756
ExAC:
4:88964518 A / G
gnomAD v2:
4-88964518-A-G
gnomAD v4:
4-88043366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88043366A>G , CM000666.2:g.88043366A>G | GRCh38 |
| NC_000004.11:g.88964518A>G , CM000666.1:g.88964518A>G | GRCh37 |
| NC_000004.10:g.89183542A>G | NCBI36 |
| NG_008604.1:g.40699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1228A>G MANE Select | ENSP00000237596.2:p.Lys410Glu | |
| ENST00000237596.6:c.1228A>G | ENSP00000237596.2:p.Lys410Glu | |
| ENST00000506367.1:n.675A>G | ||
| ENST00000508588.5:c.-290A>G | ENSP00000427131.1:n.-290A>G | |
| NM_000297.3:c.1228A>G | NP_000288.1:p.Lys410Glu | |
| XM_011532028.1:c.1095-3276A>G | XP_011530330.1:n.1095-3276A>G | |
| XM_011532029.1:c.508A>G | XP_011530331.1:p.Lys170Glu | |
| XM_011532030.1:c.388A>G | XP_011530332.1:p.Lys130Glu | |
| XR_244632.2:n.1323A>G | ||
| NR_156488.1:n.1315A>G | ||
| XM_011532028.2:c.1095-3276A>G | XP_011530330.1:n.1095-3276A>G | |
| XM_011532030.2:c.388A>G | XP_011530332.1:p.Lys130Glu | |
| NM_000297.4:c.1228A>G MANE Select | NP_000288.1:p.Lys410Glu | |
| NR_156488.2:n.1327A>G |