Linked Data
dbSNP Id:
rs1462459427
gnomAD v2:
16-16248781-A-G
gnomAD v4:
16-16154924-A-G
COSMIC:
COSM5384305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154924A>G , CM000678.2:g.16154924A>G | GRCh38 |
| NC_000016.9:g.16248781A>G , CM000678.1:g.16248781A>G | GRCh37 |
| NC_000016.8:g.16156282A>G | NCBI36 |
| NG_007558.2:g.73548T>C | |
| NG_007558.3:g.73694T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.853T>C | ||
| ENST00000622290.5:c.*162T>C | ENSP00000483331.2:n.*162T>C | |
| ENST00000205557.12:c.3990T>C MANE Select | ENSP00000205557.7:p.Ile1330= | |
| ENST00000640696.1:c.804T>C | ENSP00000492197.1:p.Ile268= | |
| ENST00000205557.11:c.3990T>C | ENSP00000205557.7:p.Ile1330= | |
| ENST00000456970.6:c.3615T>C | ENSP00000405002.2:n.3615T>C | |
| ENST00000576204.5:n.853T>C | ||
| ENST00000622290.4:c.*1199T>C | ENSP00000483331.1:n.*1199T>C | |
| NM_001171.5:c.3990T>C | NP_001162.4:p.Ile1330= | |
| XM_011522479.1:c.3957T>C | XP_011520781.1:p.Ile1319= | |
| XM_011522480.1:c.3648T>C | XP_011520782.1:p.Ile1216= | |
| XM_011522481.1:c.3648T>C | XP_011520783.1:p.Ile1216= | |
| XR_933134.1:n.539-4857A>G | ||
| NM_001351800.1:c.3648T>C | NP_001338729.1:p.Ile1216= | |
| NR_147784.1:n.3652T>C | ||
| XM_011522479.2:c.3957T>C | XP_011520781.1:p.Ile1319= | |
| XM_011522481.3:c.3648T>C | XP_011520783.1:p.Ile1216= | |
| XM_017023212.1:c.3822T>C | XP_016878701.1:p.Ile1274= | |
| XM_024450261.1:c.4026T>C | XP_024306029.1:p.Ile1342= | |
| NM_001171.6:c.3990T>C MANE Select | NP_001162.5:p.Ile1330= |