Linked Data
ClinVar Variation Id:
1587518
dbSNP Id:
rs375741855
ExAC:
16:16248880 G / A
gnomAD v2:
16-16248880-G-A
gnomAD v3:
16-16155023-G-A
gnomAD v4:
16-16155023-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155023G>A , CM000678.2:g.16155023G>A | GRCh38 |
| NC_000016.9:g.16248880G>A , CM000678.1:g.16248880G>A | GRCh37 |
| NC_000016.8:g.16156381G>A | NCBI36 |
| NG_007558.2:g.73449C>T | |
| NG_007558.3:g.73595C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.754C>T | ||
| ENST00000622290.5:c.*63C>T | ENSP00000483331.2:n.*63C>T | |
| ENST00000205557.12:c.3891C>T MANE Select | ENSP00000205557.7:p.Ile1297= | |
| ENST00000640696.1:c.705C>T | ENSP00000492197.1:p.Ile235= | |
| ENST00000205557.11:c.3891C>T | ENSP00000205557.7:p.Ile1297= | |
| ENST00000456970.6:c.3516C>T | ENSP00000405002.2:n.3516C>T | |
| ENST00000576204.5:n.754C>T | ||
| ENST00000622290.4:c.*1100C>T | ENSP00000483331.1:n.*1100C>T | |
| NM_001171.5:c.3891C>T | NP_001162.4:p.Ile1297= | |
| XM_011522479.1:c.3858C>T | XP_011520781.1:p.Ile1286= | |
| XM_011522480.1:c.3549C>T | XP_011520782.1:p.Ile1183= | |
| XM_011522481.1:c.3549C>T | XP_011520783.1:p.Ile1183= | |
| XR_932836.1:n.4189C>T | ||
| XR_932837.1:n.3927C>T | ||
| XR_932838.1:n.3990C>T | ||
| XR_933134.1:n.539-4758G>A | ||
| NM_001351800.1:c.3549C>T | NP_001338729.1:p.Ile1183= | |
| NR_147784.1:n.3553C>T | ||
| XM_011522479.2:c.3858C>T | XP_011520781.1:p.Ile1286= | |
| XM_011522481.3:c.3549C>T | XP_011520783.1:p.Ile1183= | |
| XM_017023212.1:c.3723C>T | XP_016878701.1:p.Ile1241= | |
| XM_024450261.1:c.3927C>T | XP_024306029.1:p.Ile1309= | |
| XR_932836.2:n.4135C>T | ||
| XR_932837.3:n.3872C>T | ||
| XR_932838.3:n.3935C>T | ||
| NM_001171.6:c.3891C>T MANE Select | NP_001162.5:p.Ile1297= |