Linked Data
ClinVar Variation Id:
2983175
ClinVar RCV Id:
RCV003847790
dbSNP Id:
rs1428912044
gnomAD v4:
16-3728732-T-C
MyVariant Identifiers:
chr16:g.3778733T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728732T>C , CM000678.2:g.3728732T>C | GRCh38 |
| NC_000016.9:g.3778733T>C , CM000678.1:g.3778733T>C | GRCh37 |
| NC_000016.8:g.3718734T>C | NCBI36 |
| NG_009873.1:g.156389A>G | |
| NG_009873.2:g.156982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6315A>G MANE Select | ENSP00000262367.5:p.Thr2105= | |
| ENST00000262367.9:c.6315A>G | ENSP00000262367.5:p.Thr2105= | |
| ENST00000382070.7:c.6201A>G | ENSP00000371502.3:p.Thr2067= | |
| NM_001079846.1:c.6201A>G | NP_001073315.1:p.Thr2067= | |
| NM_004380.2:c.6315A>G | NP_004371.2:p.Thr2105= | |
| XM_005255124.3:c.6270A>G | XP_005255181.1:p.Thr2090= | |
| XM_005255125.3:c.5898A>G | XP_005255182.1:p.Thr1966= | |
| XM_006720848.2:c.6054A>G | XP_006720911.1:p.Thr2018= | |
| XM_011522380.1:c.6261A>G | XP_011520682.1:p.Thr2087= | |
| XM_011522381.1:c.5562A>G | XP_011520683.1:p.Thr1854= | |
| XM_005255124.4:c.6270A>G | XP_005255181.1:p.Thr2090= | |
| XM_005255125.4:c.5898A>G | XP_005255182.1:p.Thr1966= | |
| XM_006720848.3:c.6054A>G | XP_006720911.1:p.Thr2018= | |
| XM_011522381.2:c.5562A>G | XP_011520683.1:p.Thr1854= | |
| XM_017022944.1:c.6309A>G | XP_016878433.1:p.Thr2103= | |
| NM_004380.3:c.6315A>G MANE Select | NP_004371.2:p.Thr2105= |