COSMIC:
COSM3760928 (not active)
Revel Score:
ENST00000265104 (MANE Select)
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55121027 (NFE)
Genomes Max Group AF
0.54248836 (NFE)
Exomes Max Group AF
0.55149451 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701427T>C , CM000667.2:g.13701427T>C | GRCh38 |
| NC_000005.9:g.13701536T>C , CM000667.1:g.13701536T>C | GRCh37 |
| NC_000005.8:g.13754536T>C | NCBI36 |
| NG_013081.1:g.248054A>G | |
| NG_013081.2:g.248054A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.681A>G | ||
| ENST00000265104.5:c.13348A>G MANE Select | ENSP00000265104.4:p.Ile4450Val | |
| ENST00000681290.1:c.13303A>G | ENSP00000505288.1:p.Ile4435Val | |
| ENST00000265104.4:c.13348A>G | ENSP00000265104.4:p.Ile4450Val | |
| NM_001369.2:c.13348A>G | NP_001360.1:p.Ile4450Val | |
| XM_005248262.2:c.13303A>G | XP_005248319.1:p.Ile4435Val | |
| XM_005248262.3:c.13456A>G | XP_005248319.2:p.Ile4486Val | |
| XM_017009177.1:c.13036A>G | XP_016864666.1:p.Ile4346Val | |
| XM_017009178.1:c.12361A>G | XP_016864667.1:p.Ile4121Val | |
| XM_017009179.2:c.12361A>G | XP_016864668.1:p.Ile4121Val | |
| XM_017009185.1:c.8545A>G | XP_016864674.1:p.Ile2849Val | |
| XM_017009186.1:c.8098A>G | XP_016864675.1:p.Ile2700Val | |
| XM_017009188.1:c.7435A>G | XP_016864677.1:p.Ile2479Val | |
| XM_024454388.1:c.12361A>G | XP_024310156.1:p.Ile4121Val | |
| XM_024454389.1:c.11950A>G | XP_024310157.1:p.Ile3984Val | |
| NM_001369.3:c.13348A>G MANE Select | NP_001360.1:p.Ile4450Val |