Linked Data
ClinVar Variation Id:
433489
ClinVar RCV Id:
RCV000499278
dbSNP Id:
rs72653796
ExAC:
16:16271467 G / C
gnomAD v2:
16-16271467-G-C
gnomAD v3:
16-16177610-G-C
gnomAD v4:
16-16177610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16177610G>C , CM000678.2:g.16177610G>C | GRCh38 |
| NC_000016.9:g.16271467G>C , CM000678.1:g.16271467G>C | GRCh37 |
| NC_000016.8:g.16178968G>C | NCBI36 |
| NG_007558.2:g.50862C>G | |
| NG_007558.3:g.51008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2432C>G | ENSP00000483331.2:p.Thr811Arg | |
| ENST00000205557.12:c.2432C>G MANE Select | ENSP00000205557.7:p.Thr811Arg | |
| ENST00000205557.11:c.2432C>G | ENSP00000205557.7:p.Thr811Arg | |
| ENST00000456970.6:c.2415+1188C>G | ENSP00000405002.2:n.2415+1188C>G | |
| ENST00000622290.4:c.2415+1188C>G | ENSP00000483331.1:n.2415+1188C>G | |
| NM_001171.5:c.2432C>G | NP_001162.4:p.Thr811Arg | |
| XM_011522479.1:c.2399C>G | XP_011520781.1:p.Thr800Arg | |
| XM_011522480.1:c.2090C>G | XP_011520782.1:p.Thr697Arg | |
| XM_011522481.1:c.2090C>G | XP_011520783.1:p.Thr697Arg | |
| XM_011522482.1:c.2432C>G | XP_011520784.1:p.Thr811Arg | |
| XR_932836.1:n.2667C>G | ||
| XR_932837.1:n.2668C>G | ||
| XR_932838.1:n.2668C>G | ||
| NM_001351800.1:c.2090C>G | NP_001338729.1:p.Thr697Arg | |
| NR_147784.1:n.2452+1188C>G | ||
| XM_011522479.2:c.2399C>G | XP_011520781.1:p.Thr800Arg | |
| XM_011522481.3:c.2090C>G | XP_011520783.1:p.Thr697Arg | |
| XM_011522482.3:c.2432C>G | XP_011520784.1:p.Thr811Arg | |
| XM_017023212.1:c.2264C>G | XP_016878701.1:p.Thr755Arg | |
| XM_017023214.1:c.2432C>G | XP_016878703.1:p.Thr811Arg | |
| XM_024450261.1:c.2468C>G | XP_024306029.1:p.Thr823Arg | |
| XR_932836.2:n.2613C>G | ||
| XR_932837.3:n.2613C>G | ||
| XR_932838.3:n.2613C>G | ||
| NM_001171.6:c.2432C>G MANE Select | NP_001162.5:p.Thr811Arg |