Linked Data
ClinVar Variation Id:
381638
dbSNP Id:
rs72653794
ExAC:
16:16271479 C / T
gnomAD v2:
16-16271479-C-T
gnomAD v3:
16-16177622-C-T
gnomAD v4:
16-16177622-C-T
COSMIC:
COSM2127475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16177622C>T , CM000678.2:g.16177622C>T | GRCh38 |
| NC_000016.9:g.16271479C>T , CM000678.1:g.16271479C>T | GRCh37 |
| NC_000016.8:g.16178980C>T | NCBI36 |
| NG_007558.2:g.50850G>A | |
| NG_007558.3:g.50996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2420G>A | ENSP00000483331.2:p.Arg807Gln | |
| ENST00000205557.12:c.2420G>A MANE Select | ENSP00000205557.7:p.Arg807Gln | |
| ENST00000205557.11:c.2420G>A | ENSP00000205557.7:p.Arg807Gln | |
| ENST00000456970.6:c.2415+1176G>A | ENSP00000405002.2:n.2415+1176G>A | |
| ENST00000622290.4:c.2415+1176G>A | ENSP00000483331.1:n.2415+1176G>A | |
| NM_001171.5:c.2420G>A | NP_001162.4:p.Arg807Gln | |
| XM_011522479.1:c.2387G>A | XP_011520781.1:p.Arg796Gln | |
| XM_011522480.1:c.2078G>A | XP_011520782.1:p.Arg693Gln | |
| XM_011522481.1:c.2078G>A | XP_011520783.1:p.Arg693Gln | |
| XM_011522482.1:c.2420G>A | XP_011520784.1:p.Arg807Gln | |
| XR_932836.1:n.2655G>A | ||
| XR_932837.1:n.2656G>A | ||
| XR_932838.1:n.2656G>A | ||
| NM_001351800.1:c.2078G>A | NP_001338729.1:p.Arg693Gln | |
| NR_147784.1:n.2452+1176G>A | ||
| XM_011522479.2:c.2387G>A | XP_011520781.1:p.Arg796Gln | |
| XM_011522481.3:c.2078G>A | XP_011520783.1:p.Arg693Gln | |
| XM_011522482.3:c.2420G>A | XP_011520784.1:p.Arg807Gln | |
| XM_017023212.1:c.2252G>A | XP_016878701.1:p.Arg751Gln | |
| XM_017023214.1:c.2420G>A | XP_016878703.1:p.Arg807Gln | |
| XM_024450261.1:c.2456G>A | XP_024306029.1:p.Arg819Gln | |
| XR_932836.2:n.2601G>A | ||
| XR_932837.3:n.2601G>A | ||
| XR_932838.3:n.2601G>A | ||
| NM_001171.6:c.2420G>A MANE Select | NP_001162.5:p.Arg807Gln |