Linked Data
dbSNP Id:
rs2052069630
gnomAD v3:
16-3736671-C-T
gnomAD v4:
16-3736671-C-T
MyVariant Identifiers:
chr16:g.3786672C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736671C>T , CM000678.2:g.3736671C>T | GRCh38 |
| NC_000016.9:g.3786672C>T , CM000678.1:g.3786672C>T | GRCh37 |
| NC_000016.8:g.3726673C>T | NCBI36 |
| NG_009873.1:g.148450G>A | |
| NG_009873.2:g.149043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4539G>A MANE Select | ENSP00000262367.5:p.Glu1513= | |
| ENST00000262367.9:c.4539G>A | ENSP00000262367.5:p.Glu1513= | |
| ENST00000382070.7:c.4425G>A | ENSP00000371502.3:p.Glu1475= | |
| ENST00000570939.2:c.3174G>A | ENSP00000461002.2:p.Glu1058= | |
| ENST00000571763.5:n.329G>A | ||
| ENST00000574740.1:n.360G>A | ||
| ENST00000576720.1:n.3362G>A | ||
| NM_001079846.1:c.4425G>A | NP_001073315.1:p.Glu1475= | |
| NM_004380.2:c.4539G>A | NP_004371.2:p.Glu1513= | |
| XM_005255124.3:c.4494G>A | XP_005255181.1:p.Glu1498= | |
| XM_005255125.3:c.4122G>A | XP_005255182.1:p.Glu1374= | |
| XM_006720848.2:c.4278G>A | XP_006720911.1:p.Glu1426= | |
| XM_011522380.1:c.4485G>A | XP_011520682.1:p.Glu1495= | |
| XM_011522381.1:c.3786G>A | XP_011520683.1:p.Glu1262= | |
| XM_005255124.4:c.4494G>A | XP_005255181.1:p.Glu1498= | |
| XM_005255125.4:c.4122G>A | XP_005255182.1:p.Glu1374= | |
| XM_006720848.3:c.4278G>A | XP_006720911.1:p.Glu1426= | |
| XM_011522381.2:c.3786G>A | XP_011520683.1:p.Glu1262= | |
| XM_017022944.1:c.4533G>A | XP_016878433.1:p.Glu1511= | |
| NM_004380.3:c.4539G>A MANE Select | NP_004371.2:p.Glu1513= |