COSMIC:
COSM1449213 (not active)
COSM4909282 (not active)
Revel Score:
ENST00000330883
0.464
ENST00000392968
0.464
ENST00000262186 (MANE Select)
0.464
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35211358 (NFE)
Genomes Max Group AF
0.27967095 (NFE)
Exomes Max Group AF
0.35745918 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948446T>G , CM000669.2:g.150948446T>G | GRCh38 |
| NC_000007.13:g.150645534T>G , CM000669.1:g.150645534T>G | GRCh37 |
| NC_000007.12:g.150276467T>G | NCBI36 |
| NG_008916.1:g.34481A>C , LRG_288:g.34481A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3523A>C | ||
| ENST00000262186.10:c.2690A>C MANE Select | ENSP00000262186.5:p.Lys897Thr | |
| ENST00000330883.9:c.1670A>C | ENSP00000328531.4:p.Lys557Thr | |
| ENST00000262186.9:c.2690A>C | ENSP00000262186.5:p.Lys897Thr | |
| ENST00000330883.8:c.1670A>C | ENSP00000328531.4:p.Lys557Thr | |
| NM_000238.3:c.2690A>C , LRG_288t1:c.2690A>C | NP_000229.1:p.Lys897Thr | |
| NM_172057.2:c.1670A>C , LRG_288t3:c.1670A>C | NP_742054.1:p.Lys557Thr | |
| XM_011516185.1:c.2390A>C | XP_011514487.1:p.Lys797Thr | |
| XM_011516186.1:c.2690A>C | XP_011514488.1:p.Lys897Thr | |
| XM_011516185.2:c.2390A>C | XP_011514487.1:p.Lys797Thr | |
| XM_011516186.3:c.2690A>C | XP_011514488.1:p.Lys897Thr | |
| XM_017012195.1:c.2540A>C | XP_016867684.1:p.Lys847Thr | |
| XM_017012196.1:c.2513A>C | XP_016867685.1:p.Lys838Thr | |
| NM_000238.4:c.2690A>C MANE Select | NP_000229.1:p.Lys897Thr | |
| NM_172057.3:c.1670A>C | NP_742054.1:p.Lys557Thr |