Linked Data
dbSNP Id:
rs2052071547
gnomAD v4:
16-3736749-G-A
MyVariant Identifiers:
chr16:g.3786750G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736749G>A , CM000678.2:g.3736749G>A | GRCh38 |
| NC_000016.9:g.3786750G>A , CM000678.1:g.3786750G>A | GRCh37 |
| NC_000016.8:g.3726751G>A | NCBI36 |
| NG_009873.1:g.148372C>T | |
| NG_009873.2:g.148965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4461C>T MANE Select | ENSP00000262367.5:p.His1487= | |
| ENST00000262367.9:c.4461C>T | ENSP00000262367.5:p.His1487= | |
| ENST00000382070.7:c.4347C>T | ENSP00000371502.3:p.His1449= | |
| ENST00000570939.2:c.3096C>T | ENSP00000461002.2:p.His1032= | |
| ENST00000571763.5:n.251C>T | ||
| ENST00000574740.1:n.282C>T | ||
| ENST00000576720.1:n.3284C>T | ||
| NM_001079846.1:c.4347C>T | NP_001073315.1:p.His1449= | |
| NM_004380.2:c.4461C>T | NP_004371.2:p.His1487= | |
| XM_005255124.3:c.4416C>T | XP_005255181.1:p.His1472= | |
| XM_005255125.3:c.4044C>T | XP_005255182.1:p.His1348= | |
| XM_006720848.2:c.4200C>T | XP_006720911.1:p.His1400= | |
| XM_011522380.1:c.4407C>T | XP_011520682.1:p.His1469= | |
| XM_011522381.1:c.3708C>T | XP_011520683.1:p.His1236= | |
| XM_005255124.4:c.4416C>T | XP_005255181.1:p.His1472= | |
| XM_005255125.4:c.4044C>T | XP_005255182.1:p.His1348= | |
| XM_006720848.3:c.4200C>T | XP_006720911.1:p.His1400= | |
| XM_011522381.2:c.3708C>T | XP_011520683.1:p.His1236= | |
| XM_017022944.1:c.4455C>T | XP_016878433.1:p.His1485= | |
| NM_004380.3:c.4461C>T MANE Select | NP_004371.2:p.His1487= |