Linked Data
dbSNP Id:
rs1596805619
gnomAD v4:
16-3736677-A-G
MyVariant Identifiers:
chr16:g.3786678A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736677A>G , CM000678.2:g.3736677A>G | GRCh38 |
| NC_000016.9:g.3786678A>G , CM000678.1:g.3786678A>G | GRCh37 |
| NC_000016.8:g.3726679A>G | NCBI36 |
| NG_009873.1:g.148444T>C | |
| NG_009873.2:g.149037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4533T>C MANE Select | ENSP00000262367.5:p.Phe1511= | |
| ENST00000262367.9:c.4533T>C | ENSP00000262367.5:p.Phe1511= | |
| ENST00000382070.7:c.4419T>C | ENSP00000371502.3:p.Phe1473= | |
| ENST00000570939.2:c.3168T>C | ENSP00000461002.2:p.Phe1056= | |
| ENST00000571763.5:n.323T>C | ||
| ENST00000574740.1:n.354T>C | ||
| ENST00000576720.1:n.3356T>C | ||
| NM_001079846.1:c.4419T>C | NP_001073315.1:p.Phe1473= | |
| NM_004380.2:c.4533T>C | NP_004371.2:p.Phe1511= | |
| XM_005255124.3:c.4488T>C | XP_005255181.1:p.Phe1496= | |
| XM_005255125.3:c.4116T>C | XP_005255182.1:p.Phe1372= | |
| XM_006720848.2:c.4272T>C | XP_006720911.1:p.Phe1424= | |
| XM_011522380.1:c.4479T>C | XP_011520682.1:p.Phe1493= | |
| XM_011522381.1:c.3780T>C | XP_011520683.1:p.Phe1260= | |
| XM_005255124.4:c.4488T>C | XP_005255181.1:p.Phe1496= | |
| XM_005255125.4:c.4116T>C | XP_005255182.1:p.Phe1372= | |
| XM_006720848.3:c.4272T>C | XP_006720911.1:p.Phe1424= | |
| XM_011522381.2:c.3780T>C | XP_011520683.1:p.Phe1260= | |
| XM_017022944.1:c.4527T>C | XP_016878433.1:p.Phe1509= | |
| NM_004380.3:c.4533T>C MANE Select | NP_004371.2:p.Phe1511= |