Linked Data
dbSNP Id:
rs1484511446
gnomAD v2:
16-3828103-A-G
gnomAD v3:
16-3778102-A-G
gnomAD v4:
16-3778102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778102A>G , CM000678.2:g.3778102A>G | GRCh38 |
| NC_000016.9:g.3828103A>G , CM000678.1:g.3828103A>G | GRCh37 |
| NC_000016.8:g.3768104A>G | NCBI36 |
| NG_009873.1:g.107019T>C | |
| NG_009873.2:g.107612T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2022T>C MANE Select | ENSP00000262367.5:p.His674= | |
| ENST00000262367.9:c.2022T>C | ENSP00000262367.5:p.His674= | |
| ENST00000382070.7:c.1908T>C | ENSP00000371502.3:p.His636= | |
| ENST00000570939.2:c.627T>C | ENSP00000461002.2:p.His209= | |
| ENST00000571826.5:c.71T>C | ||
| ENST00000572134.1:c.335T>C | ||
| ENST00000634839.1:n.184T>C | ||
| NM_001079846.1:c.1908T>C | NP_001073315.1:p.His636= | |
| NM_004380.2:c.2022T>C | NP_004371.2:p.His674= | |
| XM_005255124.3:c.2022T>C | XP_005255181.1:p.His674= | |
| XM_005255125.3:c.2022T>C | XP_005255182.1:p.His674= | |
| XM_006720848.2:c.2022T>C | XP_006720911.1:p.His674= | |
| XM_011522380.1:c.1968T>C | XP_011520682.1:p.His656= | |
| XM_011522381.1:c.1269T>C | XP_011520683.1:p.His423= | |
| XM_011522382.1:c.2022T>C | XP_011520684.1:p.His674= | |
| XM_005255124.4:c.2022T>C | XP_005255181.1:p.His674= | |
| XM_005255125.4:c.2022T>C | XP_005255182.1:p.His674= | |
| XM_006720848.3:c.2022T>C | XP_006720911.1:p.His674= | |
| XM_011522381.2:c.1269T>C | XP_011520683.1:p.His423= | |
| XM_011522382.3:c.2022T>C | XP_011520684.1:p.His674= | |
| XM_017022944.1:c.2022T>C | XP_016878433.1:p.His674= | |
| NM_004380.3:c.2022T>C MANE Select | NP_004371.2:p.His674= |