Linked Data
ClinVar Variation Id:
1310791
ClinVar RCV Id:
RCV001767905
dbSNP Id:
rs2149433696
gnomAD v4:
6-75914209-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914209C>G , CM000668.2:g.75914209C>G | GRCh38 |
| NC_000006.11:g.76623926C>G , CM000668.1:g.76623926C>G | GRCh37 |
| NC_000006.10:g.76680646C>G | NCBI36 |
| NG_009934.1:g.170018C>G | |
| NG_009934.2:g.170017C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3490C>G | ENSP00000358992.1:p.His1164Asp | |
| ENST00000369977.8:c.3586C>G MANE Select | ENSP00000358994.3:p.His1196Asp | |
| ENST00000369985.9:c.3517C>G | ENSP00000359002.3:p.His1173Asp | |
| ENST00000664640.1:c.3613C>G | ENSP00000499278.1:p.His1205Asp | |
| ENST00000671923.1:c.*1597C>G | ENSP00000500835.1:n.*1597C>G | |
| ENST00000672093.1:c.3586C>G | ENSP00000500710.1:p.His1196Asp | |
| ENST00000672162.1:n.1752C>G | ||
| ENST00000369975.5:c.3490C>G | ENSP00000358992.1:p.His1164Asp | |
| ENST00000369977.7:c.3586C>G | ENSP00000358994.3:p.His1196Asp | |
| ENST00000369981.7:c.3616C>G | ENSP00000358998.4:p.His1206Asp | |
| ENST00000369985.8:c.3517C>G | ENSP00000359002.3:p.His1173Asp | |
| ENST00000615563.4:c.3517C>G | ENSP00000478013.1:p.His1173Asp | |
| ENST00000627432.2:c.3613C>G | ENSP00000487348.1:p.His1205Asp | |
| NM_001300899.1:c.3517C>G | NP_001287828.1:p.His1173Asp | |
| NM_004999.3:c.3586C>G | NP_004990.3:p.His1196Asp | |
| XM_005248719.2:c.3613C>G | XP_005248776.1:p.His1205Asp | |
| XM_005248720.2:c.3586C>G | XP_005248777.1:p.His1196Asp | |
| XM_005248721.2:c.3574C>G | XP_005248778.1:p.His1192Asp | |
| XM_005248722.2:c.3559C>G | XP_005248779.1:p.His1187Asp | |
| XM_005248724.2:c.3547C>G | XP_005248781.1:p.His1183Asp | |
| XM_005248726.2:c.3490C>G | XP_005248783.1:p.His1164Asp | |
| XM_005248719.4:c.3613C>G | XP_005248776.1:p.His1205Asp | |
| XM_005248720.4:c.3586C>G | XP_005248777.1:p.His1196Asp | |
| XM_005248721.4:c.3574C>G | XP_005248778.1:p.His1192Asp | |
| XM_005248722.4:c.3559C>G | XP_005248779.1:p.His1187Asp | |
| XM_005248724.4:c.3547C>G | XP_005248781.1:p.His1183Asp | |
| XM_005248726.4:c.3490C>G | XP_005248783.1:p.His1164Asp | |
| XM_017010899.2:c.3520C>G | XP_016866388.1:p.His1174Asp | |
| XM_024446447.1:c.3613C>G | XP_024302215.1:p.His1205Asp | |
| XM_024446448.1:c.3547C>G | XP_024302216.1:p.His1183Asp | |
| NM_004999.4:c.3586C>G MANE Select | NP_004990.3:p.His1196Asp | |
| NM_001300899.2:c.3517C>G | NP_001287828.1:p.His1173Asp | |
| NM_001368136.1:c.3490C>G | NP_001355065.1:p.His1164Asp | |
| NM_001368137.1:c.3547C>G | NP_001355066.1:p.His1183Asp | |
| NM_001368138.1:c.3502C>G | NP_001355067.1:p.His1168Asp | |
| NM_001368865.1:c.3613C>G | NP_001355794.1:p.His1205Asp | |
| NM_001368866.1:c.3586C>G | NP_001355795.1:p.His1196Asp | |
| NR_160538.1:n.3815C>G |