Linked Data
ClinVar Variation Id:
930520
ClinVar RCV Id:
RCV001863103
dbSNP Id:
rs63751325
ExAC:
16:16248879 C / T
gnomAD v2:
16-16248879-C-T
gnomAD v3:
16-16155022-C-T
gnomAD v4:
16-16155022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155022C>T , CM000678.2:g.16155022C>T | GRCh38 |
| NC_000016.9:g.16248879C>T , CM000678.1:g.16248879C>T | GRCh37 |
| NC_000016.8:g.16156380C>T | NCBI36 |
| NG_007558.2:g.73450G>A | |
| NG_007558.3:g.73596G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.755G>A | ||
| ENST00000622290.5:c.*64G>A | ENSP00000483331.2:n.*64G>A | |
| ENST00000205557.12:c.3892G>A MANE Select | ENSP00000205557.7:p.Val1298Ile | |
| ENST00000640696.1:c.706G>A | ENSP00000492197.1:p.Val236Ile | |
| ENST00000205557.11:c.3892G>A | ENSP00000205557.7:p.Val1298Ile | |
| ENST00000456970.6:c.3517G>A | ENSP00000405002.2:n.3517G>A | |
| ENST00000576204.5:n.755G>A | ||
| ENST00000622290.4:c.*1101G>A | ENSP00000483331.1:n.*1101G>A | |
| NM_001171.5:c.3892G>A | NP_001162.4:p.Val1298Ile | |
| XM_011522479.1:c.3859G>A | XP_011520781.1:p.Val1287Ile | |
| XM_011522480.1:c.3550G>A | XP_011520782.1:p.Val1184Ile | |
| XM_011522481.1:c.3550G>A | XP_011520783.1:p.Val1184Ile | |
| XR_932836.1:n.4190G>A | ||
| XR_932837.1:n.3928G>A | ||
| XR_932838.1:n.3991G>A | ||
| XR_933134.1:n.539-4759C>T | ||
| NM_001351800.1:c.3550G>A | NP_001338729.1:p.Val1184Ile | |
| NR_147784.1:n.3554G>A | ||
| XM_011522479.2:c.3859G>A | XP_011520781.1:p.Val1287Ile | |
| XM_011522481.3:c.3550G>A | XP_011520783.1:p.Val1184Ile | |
| XM_017023212.1:c.3724G>A | XP_016878701.1:p.Val1242Ile | |
| XM_024450261.1:c.3928G>A | XP_024306029.1:p.Val1310Ile | |
| XR_932836.2:n.4136G>A | ||
| XR_932837.3:n.3873G>A | ||
| XR_932838.3:n.3936G>A | ||
| NM_001171.6:c.3892G>A MANE Select | NP_001162.5:p.Val1298Ile |