Linked Data
ClinVar Variation Id:
433435
dbSNP Id:
rs760376992
ExAC:
16:16251615 C / T
gnomAD v2:
16-16251615-C-T
gnomAD v3:
16-16157758-C-T
gnomAD v4:
16-16157758-C-T
COSMIC:
COSM181762
PubMed:
PMID:18157818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157758C>T , CM000678.2:g.16157758C>T | GRCh38 |
| NC_000016.9:g.16251615C>T , CM000678.1:g.16251615C>T | GRCh37 |
| NC_000016.8:g.16159116C>T | NCBI36 |
| NG_007558.2:g.70714G>A | |
| NG_007558.3:g.70860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3787G>A | ENSP00000483331.2:p.Gly1263Arg | |
| ENST00000205557.12:c.3787G>A MANE Select | ENSP00000205557.7:p.Gly1263Arg | |
| ENST00000640696.1:c.601G>A | ENSP00000492197.1:p.Gly201Arg | |
| ENST00000205557.11:c.3787G>A | ENSP00000205557.7:p.Gly1263Arg | |
| ENST00000456970.6:c.3412G>A | ENSP00000405002.2:n.3412G>A | |
| ENST00000622290.4:c.*996G>A | ENSP00000483331.1:n.*996G>A | |
| NM_001171.5:c.3787G>A | NP_001162.4:p.Gly1263Arg | |
| XM_011522479.1:c.3754G>A | XP_011520781.1:p.Gly1252Arg | |
| XM_011522480.1:c.3445G>A | XP_011520782.1:p.Gly1149Arg | |
| XM_011522481.1:c.3445G>A | XP_011520783.1:p.Gly1149Arg | |
| XR_932836.1:n.4022G>A | ||
| XR_932837.1:n.3823G>A | ||
| XR_932838.1:n.3823G>A | ||
| XR_933134.1:n.539-2023C>T | ||
| NM_001351800.1:c.3445G>A | NP_001338729.1:p.Gly1149Arg | |
| NR_147784.1:n.3449G>A | ||
| XM_011522479.2:c.3754G>A | XP_011520781.1:p.Gly1252Arg | |
| XM_011522481.3:c.3445G>A | XP_011520783.1:p.Gly1149Arg | |
| XM_017023212.1:c.3619G>A | XP_016878701.1:p.Gly1207Arg | |
| XM_024450261.1:c.3823G>A | XP_024306029.1:p.Gly1275Arg | |
| XR_932836.2:n.3968G>A | ||
| XR_932837.3:n.3768G>A | ||
| XR_932838.3:n.3768G>A | ||
| NM_001171.6:c.3787G>A MANE Select | NP_001162.5:p.Gly1263Arg |