Linked Data
ClinVar Variation Id:
2918316
ClinVar RCV Id:
RCV003761131
dbSNP Id:
rs762450931
ExAC:
16:3860638 A / G
gnomAD v2:
16-3860638-A-G
gnomAD v3:
16-3810637-A-G
gnomAD v4:
16-3810637-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810637A>G , CM000678.2:g.3810637A>G | GRCh38 |
| NC_000016.9:g.3860638A>G , CM000678.1:g.3860638A>G | GRCh37 |
| NC_000016.8:g.3800639A>G | NCBI36 |
| NG_009873.1:g.74484T>C | |
| NG_009873.2:g.75077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.941T>C MANE Select | ENSP00000262367.5:p.Ile314Thr | |
| ENST00000262367.9:c.941T>C | ENSP00000262367.5:p.Ile314Thr | |
| ENST00000382070.7:c.941T>C | ENSP00000371502.3:p.Ile314Thr | |
| NM_001079846.1:c.941T>C | NP_001073315.1:p.Ile314Thr | |
| NM_004380.2:c.941T>C | NP_004371.2:p.Ile314Thr | |
| XM_005255124.3:c.941T>C | XP_005255181.1:p.Ile314Thr | |
| XM_005255125.3:c.941T>C | XP_005255182.1:p.Ile314Thr | |
| XM_006720848.2:c.941T>C | XP_006720911.1:p.Ile314Thr | |
| XM_011522380.1:c.887T>C | XP_011520682.1:p.Ile296Thr | |
| XM_011522381.1:c.188T>C | XP_011520683.1:p.Ile63Thr | |
| XM_011522382.1:c.941T>C | XP_011520684.1:p.Ile314Thr | |
| XM_005255124.4:c.941T>C | XP_005255181.1:p.Ile314Thr | |
| XM_005255125.4:c.941T>C | XP_005255182.1:p.Ile314Thr | |
| XM_006720848.3:c.941T>C | XP_006720911.1:p.Ile314Thr | |
| XM_011522381.2:c.188T>C | XP_011520683.1:p.Ile63Thr | |
| XM_011522382.3:c.941T>C | XP_011520684.1:p.Ile314Thr | |
| XM_017022944.1:c.941T>C | XP_016878433.1:p.Ile314Thr | |
| NM_004380.3:c.941T>C MANE Select | NP_004371.2:p.Ile314Thr |