COSMIC:
COSM5019618 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33896215 (AMR)
Genomes Max Group AF
0.30290409 (NFE)
Exomes Max Group AF
0.35188212 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33320494A>G , CM000668.2:g.33320494A>G | GRCh38 |
| NC_000006.11:g.33288271A>G , CM000668.1:g.33288271A>G | GRCh37 |
| NC_000006.10:g.33396249A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706094.1:c.1173T>C | ENSP00000516212.1:p.Tyr391= | |
| ENST00000374542.10:c.1137T>C MANE Select | ENSP00000363668.5:p.Tyr379= | |
| ENST00000266000.10:c.1137T>C | ENSP00000266000.6:p.Tyr379= | |
| ENST00000374542.9:c.1137T>C | ENSP00000363668.5:p.Tyr379= | |
| ENST00000414083.6:c.912T>C | ENSP00000396876.2:p.Tyr304= | |
| ENST00000468536.5:n.167T>C | ||
| ENST00000477162.1:n.249T>C | ||
| ENST00000620164.4:c.1137T>C | ENSP00000482399.1:p.Tyr379= | |
| NM_001141969.1:c.1137T>C | NP_001135441.1:p.Tyr379= | |
| NM_001141970.1:c.1173T>C | NP_001135442.1:p.Tyr391= | |
| NM_001254717.1:c.912T>C | NP_001241646.1:p.Tyr304= | |
| NM_001350.4:c.1137T>C | NP_001341.1:p.Tyr379= | |
| XM_005248860.3:c.33T>C | XP_005248917.1:p.Tyr11= | |
| NM_001141969.2:c.1137T>C MANE Select | NP_001135441.1:p.Tyr379= | |
| NM_001141970.2:c.1173T>C | NP_001135442.1:p.Tyr391= | |
| NM_001350.5:c.1137T>C | NP_001341.1:p.Tyr379= | |
| NM_001254717.2:c.912T>C | NP_001241646.1:p.Tyr304= |