COSMIC:
COSM3760162 (not active)
Revel Score:
ENST00000494383
0.083
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36551658 (AFR)
Genomes Max Group AF
0.35677172 (AFR)
Exomes Max Group AF
0.37292969 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52230891T>C , CM000665.2:g.52230891T>C | GRCh38 |
| NC_000003.11:g.52264907T>C , CM000665.1:g.52264907T>C | GRCh37 |
| NC_000003.10:g.52239947T>C | NCBI36 |
| NG_033933.1:g.273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305533.10:c.588A>G MANE Select | ENSP00000303908.4:p.Lys196= | |
| ENST00000472755.2:n.721A>G | ||
| ENST00000676552.1:n.1278A>G | ||
| ENST00000676800.1:n.718A>G | ||
| ENST00000676988.1:c.588A>G | ENSP00000503120.1:p.Lys196= | |
| ENST00000676989.1:c.*427A>G | ENSP00000503679.1:n.*427A>G | |
| ENST00000677058.1:n.849A>G | ||
| ENST00000677127.1:n.713A>G | ||
| ENST00000678330.1:c.588A>G | ENSP00000504436.1:p.Lys196= | |
| ENST00000678352.1:n.647A>G | ||
| ENST00000678549.1:c.*427A>G | ENSP00000504044.1:n.*427A>G | |
| ENST00000678681.1:n.829A>G | ||
| ENST00000678700.1:n.721A>G | ||
| ENST00000678838.1:c.294A>G | ENSP00000504408.1:p.Lys98= | |
| ENST00000678882.1:n.640A>G | ||
| ENST00000679180.1:n.636A>G | ||
| ENST00000679296.1:c.294A>G | ENSP00000504576.1:p.Lys98= | |
| ENST00000305533.9:c.588A>G | ENSP00000303908.4:p.Lys196= | |
| ENST00000494383.1:c.169A>G | ||
| ENST00000499914.2:c.588A>G | ENSP00000426464.1:p.Lys196= | |
| NM_007284.3:c.588A>G | NP_009215.1:p.Lys196= | |
| NM_007284.4:c.588A>G MANE Select | NP_009215.1:p.Lys196= |