Linked Data
ClinVar Variation Id:
2725603
ClinVar RCV Id:
RCV003595415
dbSNP Id:
rs780441901
ExAC:
16:3778745 G / A
gnomAD v2:
16-3778745-G-A
gnomAD v3:
16-3728744-G-A
gnomAD v4:
16-3728744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728744G>A , CM000678.2:g.3728744G>A | GRCh38 |
| NC_000016.9:g.3778745G>A , CM000678.1:g.3778745G>A | GRCh37 |
| NC_000016.8:g.3718746G>A | NCBI36 |
| NG_009873.1:g.156377C>T | |
| NG_009873.2:g.156970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6303C>T MANE Select | ENSP00000262367.5:p.Ile2101= | |
| ENST00000262367.9:c.6303C>T | ENSP00000262367.5:p.Ile2101= | |
| ENST00000382070.7:c.6189C>T | ENSP00000371502.3:p.Ile2063= | |
| NM_001079846.1:c.6189C>T | NP_001073315.1:p.Ile2063= | |
| NM_004380.2:c.6303C>T | NP_004371.2:p.Ile2101= | |
| XM_005255124.3:c.6258C>T | XP_005255181.1:p.Ile2086= | |
| XM_005255125.3:c.5886C>T | XP_005255182.1:p.Ile1962= | |
| XM_006720848.2:c.6042C>T | XP_006720911.1:p.Ile2014= | |
| XM_011522380.1:c.6249C>T | XP_011520682.1:p.Ile2083= | |
| XM_011522381.1:c.5550C>T | XP_011520683.1:p.Ile1850= | |
| XM_005255124.4:c.6258C>T | XP_005255181.1:p.Ile2086= | |
| XM_005255125.4:c.5886C>T | XP_005255182.1:p.Ile1962= | |
| XM_006720848.3:c.6042C>T | XP_006720911.1:p.Ile2014= | |
| XM_011522381.2:c.5550C>T | XP_011520683.1:p.Ile1850= | |
| XM_017022944.1:c.6297C>T | XP_016878433.1:p.Ile2099= | |
| NM_004380.3:c.6303C>T MANE Select | NP_004371.2:p.Ile2101= |