Linked Data
ClinVar Variation Id:
433278
ClinVar RCV Id:
RCV000499178
dbSNP Id:
rs72653797
ExAC:
16:16271441 C / G
gnomAD v2:
16-16271441-C-G
gnomAD v3:
16-16177584-C-G
gnomAD v4:
16-16177584-C-G
PubMed:
PMID:15459974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16177584C>G , CM000678.2:g.16177584C>G | GRCh38 |
| NC_000016.9:g.16271441C>G , CM000678.1:g.16271441C>G | GRCh37 |
| NC_000016.8:g.16178942C>G | NCBI36 |
| NG_007558.2:g.50888G>C | |
| NG_007558.3:g.51034G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2458G>C | ENSP00000483331.2:p.Ala820Pro | |
| ENST00000205557.12:c.2458G>C MANE Select | ENSP00000205557.7:p.Ala820Pro | |
| ENST00000205557.11:c.2458G>C | ENSP00000205557.7:p.Ala820Pro | |
| ENST00000456970.6:c.2415+1214G>C | ENSP00000405002.2:n.2415+1214G>C | |
| ENST00000622290.4:c.2415+1214G>C | ENSP00000483331.1:n.2415+1214G>C | |
| NM_001171.5:c.2458G>C | NP_001162.4:p.Ala820Pro | |
| XM_011522479.1:c.2425G>C | XP_011520781.1:p.Ala809Pro | |
| XM_011522480.1:c.2116G>C | XP_011520782.1:p.Ala706Pro | |
| XM_011522481.1:c.2116G>C | XP_011520783.1:p.Ala706Pro | |
| XM_011522482.1:c.2458G>C | XP_011520784.1:p.Ala820Pro | |
| XR_932836.1:n.2693G>C | ||
| XR_932837.1:n.2694G>C | ||
| XR_932838.1:n.2694G>C | ||
| NM_001351800.1:c.2116G>C | NP_001338729.1:p.Ala706Pro | |
| NR_147784.1:n.2452+1214G>C | ||
| XM_011522479.2:c.2425G>C | XP_011520781.1:p.Ala809Pro | |
| XM_011522481.3:c.2116G>C | XP_011520783.1:p.Ala706Pro | |
| XM_011522482.3:c.2458G>C | XP_011520784.1:p.Ala820Pro | |
| XM_017023212.1:c.2290G>C | XP_016878701.1:p.Ala764Pro | |
| XM_017023214.1:c.2458G>C | XP_016878703.1:p.Ala820Pro | |
| XM_024450261.1:c.2494G>C | XP_024306029.1:p.Ala832Pro | |
| XR_932836.2:n.2639G>C | ||
| XR_932837.3:n.2639G>C | ||
| XR_932838.3:n.2639G>C | ||
| NM_001171.6:c.2458G>C MANE Select | NP_001162.5:p.Ala820Pro |