Linked Data
ClinVar Variation Id:
2836410
ClinVar RCV Id:
RCV003690066
MyVariant Identifiers:
chr16:g.16259522A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165665A>C , CM000678.2:g.16165665A>C | GRCh38 |
| NC_000016.9:g.16259522A>C , CM000678.1:g.16259522A>C | GRCh37 |
| NC_000016.8:g.16167023A>C | NCBI36 |
| NG_007558.2:g.62807T>G | |
| NG_007558.3:g.62953T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3264T>G | ENSP00000483331.2:p.Thr1088= | |
| ENST00000205557.12:c.3264T>G MANE Select | ENSP00000205557.7:p.Thr1088= | |
| ENST00000640696.1:c.278T>G | ENSP00000492197.1:p.Leu93Arg | |
| ENST00000205557.11:c.3264T>G | ENSP00000205557.7:p.Thr1088= | |
| ENST00000456970.6:c.3089T>G | ENSP00000405002.2:n.3089T>G | |
| ENST00000622290.4:c.*473T>G | ENSP00000483331.1:n.*473T>G | |
| NM_001171.5:c.3264T>G | NP_001162.4:p.Thr1088= | |
| XM_011522479.1:c.3231T>G | XP_011520781.1:p.Thr1077= | |
| XM_011522480.1:c.2922T>G | XP_011520782.1:p.Thr974= | |
| XM_011522481.1:c.2922T>G | XP_011520783.1:p.Thr974= | |
| XR_932836.1:n.3499T>G | ||
| XR_932837.1:n.3500T>G | ||
| XR_932838.1:n.3500T>G | ||
| NM_001351800.1:c.2922T>G | NP_001338729.1:p.Thr974= | |
| NR_147784.1:n.3126T>G | ||
| XM_011522479.2:c.3231T>G | XP_011520781.1:p.Thr1077= | |
| XM_011522481.3:c.2922T>G | XP_011520783.1:p.Thr974= | |
| XM_017023212.1:c.3096T>G | XP_016878701.1:p.Thr1032= | |
| XM_017023214.1:c.3264T>G | XP_016878703.1:p.Thr1088= | |
| XM_024450261.1:c.3300T>G | XP_024306029.1:p.Thr1100= | |
| XR_932836.2:n.3445T>G | ||
| XR_932837.3:n.3445T>G | ||
| XR_932838.3:n.3445T>G | ||
| NM_001171.6:c.3264T>G MANE Select | NP_001162.5:p.Thr1088= |