Linked Data
dbSNP Id:
rs753351544
ExAC:
5:13752326 T / C
gnomAD v2:
5-13752326-T-C
gnomAD v4:
5-13752217-T-C
COSMIC:
COSM5011387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752217T>C , CM000667.2:g.13752217T>C | GRCh38 |
| NC_000005.9:g.13752326T>C , CM000667.1:g.13752326T>C | GRCh37 |
| NC_000005.8:g.13805326T>C | NCBI36 |
| NG_013081.1:g.197264A>G | |
| NG_013081.2:g.197264A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10945A>G MANE Select | ENSP00000265104.4:p.Ile3649Val | |
| ENST00000681290.1:c.10900A>G | ENSP00000505288.1:p.Ile3634Val | |
| ENST00000265104.4:c.10945A>G | ENSP00000265104.4:p.Ile3649Val | |
| NM_001369.2:c.10945A>G | NP_001360.1:p.Ile3649Val | |
| XM_005248262.2:c.10900A>G | XP_005248319.1:p.Ile3634Val | |
| XM_005248262.3:c.11053A>G | XP_005248319.2:p.Ile3685Val | |
| XM_017009177.1:c.11053A>G | XP_016864666.1:p.Ile3685Val | |
| XM_017009178.1:c.9958A>G | XP_016864667.1:p.Ile3320Val | |
| XM_017009179.2:c.9958A>G | XP_016864668.1:p.Ile3320Val | |
| XM_017009180.1:c.11053A>G | XP_016864669.1:p.Ile3685Val | |
| XM_017009181.1:c.11053A>G | XP_016864670.1:p.Ile3685Val | |
| XM_017009182.1:c.11053A>G | XP_016864671.1:p.Ile3685Val | |
| XM_017009185.1:c.6142A>G | XP_016864674.1:p.Ile2048Val | |
| XM_017009186.1:c.5695A>G | XP_016864675.1:p.Ile1899Val | |
| XM_017009188.1:c.5032A>G | XP_016864677.1:p.Ile1678Val | |
| XM_024454388.1:c.9958A>G | XP_024310156.1:p.Ile3320Val | |
| XM_024454389.1:c.9547A>G | XP_024310157.1:p.Ile3183Val | |
| NM_001369.3:c.10945A>G MANE Select | NP_001360.1:p.Ile3649Val |