Linked Data
ClinVar Variation Id:
433333
ClinVar RCV Id:
RCV000499145
dbSNP Id:
rs63750446
gnomAD v2:
16-16248876-C-T
gnomAD v4:
16-16155019-C-T
PubMed:
PMID:15894595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155019C>T , CM000678.2:g.16155019C>T | GRCh38 |
| NC_000016.9:g.16248876C>T , CM000678.1:g.16248876C>T | GRCh37 |
| NC_000016.8:g.16156377C>T | NCBI36 |
| NG_007558.2:g.73453G>A | |
| NG_007558.3:g.73599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.758G>A | ||
| ENST00000622290.5:c.*67G>A | ENSP00000483331.2:n.*67G>A | |
| ENST00000205557.12:c.3895G>A MANE Select | ENSP00000205557.7:p.Gly1299Ser | |
| ENST00000640696.1:c.709G>A | ENSP00000492197.1:p.Gly237Ser | |
| ENST00000205557.11:c.3895G>A | ENSP00000205557.7:p.Gly1299Ser | |
| ENST00000456970.6:c.3520G>A | ENSP00000405002.2:n.3520G>A | |
| ENST00000576204.5:n.758G>A | ||
| ENST00000622290.4:c.*1104G>A | ENSP00000483331.1:n.*1104G>A | |
| NM_001171.5:c.3895G>A | NP_001162.4:p.Gly1299Ser | |
| XM_011522479.1:c.3862G>A | XP_011520781.1:p.Gly1288Ser | |
| XM_011522480.1:c.3553G>A | XP_011520782.1:p.Gly1185Ser | |
| XM_011522481.1:c.3553G>A | XP_011520783.1:p.Gly1185Ser | |
| XR_932836.1:n.4193G>A | ||
| XR_932837.1:n.3931G>A | ||
| XR_932838.1:n.3994G>A | ||
| XR_933134.1:n.539-4762C>T | ||
| NM_001351800.1:c.3553G>A | NP_001338729.1:p.Gly1185Ser | |
| NR_147784.1:n.3557G>A | ||
| XM_011522479.2:c.3862G>A | XP_011520781.1:p.Gly1288Ser | |
| XM_011522481.3:c.3553G>A | XP_011520783.1:p.Gly1185Ser | |
| XM_017023212.1:c.3727G>A | XP_016878701.1:p.Gly1243Ser | |
| XM_024450261.1:c.3931G>A | XP_024306029.1:p.Gly1311Ser | |
| XR_932836.2:n.4139G>A | ||
| XR_932837.3:n.3876G>A | ||
| XR_932838.3:n.3939G>A | ||
| NM_001171.6:c.3895G>A MANE Select | NP_001162.5:p.Gly1299Ser |