Linked Data
dbSNP Id:
rs749761484
ExAC:
16:16248835 C / T
gnomAD v2:
16-16248835-C-T
gnomAD v4:
16-16154978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154978C>T , CM000678.2:g.16154978C>T | GRCh38 |
| NC_000016.9:g.16248835C>T , CM000678.1:g.16248835C>T | GRCh37 |
| NC_000016.8:g.16156336C>T | NCBI36 |
| NG_007558.2:g.73494G>A | |
| NG_007558.3:g.73640G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.799G>A | ||
| ENST00000622290.5:c.*108G>A | ENSP00000483331.2:n.*108G>A | |
| ENST00000205557.12:c.3936G>A MANE Select | ENSP00000205557.7:p.Leu1312= | |
| ENST00000640696.1:c.750G>A | ENSP00000492197.1:p.Leu250= | |
| ENST00000205557.11:c.3936G>A | ENSP00000205557.7:p.Leu1312= | |
| ENST00000456970.6:c.3561G>A | ENSP00000405002.2:n.3561G>A | |
| ENST00000576204.5:n.799G>A | ||
| ENST00000622290.4:c.*1145G>A | ENSP00000483331.1:n.*1145G>A | |
| NM_001171.5:c.3936G>A | NP_001162.4:p.Leu1312= | |
| XM_011522479.1:c.3903G>A | XP_011520781.1:p.Leu1301= | |
| XM_011522480.1:c.3594G>A | XP_011520782.1:p.Leu1198= | |
| XM_011522481.1:c.3594G>A | XP_011520783.1:p.Leu1198= | |
| XR_932836.1:n.4234G>A | ||
| XR_932837.1:n.3972G>A | ||
| XR_932838.1:n.4035G>A | ||
| XR_933134.1:n.539-4803C>T | ||
| NM_001351800.1:c.3594G>A | NP_001338729.1:p.Leu1198= | |
| NR_147784.1:n.3598G>A | ||
| XM_011522479.2:c.3903G>A | XP_011520781.1:p.Leu1301= | |
| XM_011522481.3:c.3594G>A | XP_011520783.1:p.Leu1198= | |
| XM_017023212.1:c.3768G>A | XP_016878701.1:p.Leu1256= | |
| XM_024450261.1:c.3972G>A | XP_024306029.1:p.Leu1324= | |
| XR_932836.2:n.4180G>A | ||
| XR_932837.3:n.3917G>A | ||
| XR_932838.3:n.3980G>A | ||
| NM_001171.6:c.3936G>A MANE Select | NP_001162.5:p.Leu1312= |