Linked Data
ClinVar Variation Id:
433395
dbSNP Id:
rs72664213
gnomAD v4:
16-16155036-C-T
PubMed:
PMID:17617515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155036C>T , CM000678.2:g.16155036C>T | GRCh38 |
| NC_000016.9:g.16248893C>T , CM000678.1:g.16248893C>T | GRCh37 |
| NC_000016.8:g.16156394C>T | NCBI36 |
| NG_007558.2:g.73436G>A | |
| NG_007558.3:g.73582G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.741G>A | ||
| ENST00000622290.5:c.*55-5G>A | ENSP00000483331.2:n.*55-5G>A | |
| ENST00000205557.12:c.3883-5G>A MANE Select | ENSP00000205557.7:n.3883-5G>A | |
| ENST00000640696.1:c.697-5G>A | ENSP00000492197.1:n.697-5G>A | |
| ENST00000205557.11:c.3883-5G>A | ENSP00000205557.7:n.3883-5G>A | |
| ENST00000456970.6:c.3508-5G>A | ENSP00000405002.2:n.3508-5G>A | |
| ENST00000576204.5:n.741G>A | ||
| ENST00000622290.4:c.*1092-5G>A | ENSP00000483331.1:n.*1092-5G>A | |
| NM_001171.5:c.3883-5G>A | NP_001162.4:n.3883-5G>A | |
| XM_011522479.1:c.3850-5G>A | XP_011520781.1:n.3850-5G>A | |
| XM_011522480.1:c.3541-5G>A | XP_011520782.1:n.3541-5G>A | |
| XM_011522481.1:c.3541-5G>A | XP_011520783.1:n.3541-5G>A | |
| XR_932836.1:n.4181-5G>A | ||
| XR_932837.1:n.3919-5G>A | ||
| XR_932838.1:n.3982-5G>A | ||
| XR_933134.1:n.539-4745C>T | ||
| NM_001351800.1:c.3541-5G>A | NP_001338729.1:n.3541-5G>A | |
| NR_147784.1:n.3545-5G>A | ||
| XM_011522479.2:c.3850-5G>A | XP_011520781.1:n.3850-5G>A | |
| XM_011522481.3:c.3541-5G>A | XP_011520783.1:n.3541-5G>A | |
| XM_017023212.1:c.3715-5G>A | XP_016878701.1:n.3715-5G>A | |
| XM_024450261.1:c.3919-5G>A | XP_024306029.1:n.3919-5G>A | |
| XR_932836.2:n.4127-5G>A | ||
| XR_932837.3:n.3864-5G>A | ||
| XR_932838.3:n.3927-5G>A | ||
| NM_001171.6:c.3883-5G>A MANE Select | NP_001162.5:n.3883-5G>A |