COSMIC:
COSM3753027 (not active)
COSM3753028 (not active)
COSM3753029 (not active)
COSM4146804 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81071032 (AFR)
Genomes Max Group AF
0.80429124 (AFR)
Exomes Max Group AF
0.81367349 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124800202A>G , CM000674.2:g.124800202A>G | GRCh38 |
| NC_000012.11:g.125284748A>G , CM000674.1:g.125284748A>G | GRCh37 |
| NC_000012.10:g.123850701A>G | NCBI36 |
| NG_028199.1:g.68772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261693.11:c.1050T>C MANE Select | ENSP00000261693.6:p.Ala350= | |
| ENST00000679605.1:c.*128+7559T>C | ENSP00000505370.1:n.*128+7559T>C | |
| ENST00000679955.1:n.2774T>C | ||
| ENST00000680556.1:c.1004+7564T>C | ENSP00000505757.1:n.1004+7564T>C | |
| ENST00000680596.1:c.1026T>C | ENSP00000505605.1:p.Ala342= | |
| ENST00000680926.1:c.1045T>C | ENSP00000505571.1:p.Ter349Arg | |
| ENST00000680982.1:c.*1033T>C | ENSP00000506281.1:n.*1033T>C | |
| ENST00000681117.1:c.*169T>C | ENSP00000506693.1:n.*169T>C | |
| ENST00000681499.1:n.923T>C | ||
| ENST00000681555.1:n.740T>C | ||
| ENST00000681686.1:c.1050T>C | ENSP00000505406.1:p.Ala350= | |
| ENST00000261693.10:c.1050T>C | ENSP00000261693.6:p.Ala350= | |
| ENST00000339570.9:c.1050T>C | ENSP00000343795.4:p.Ala350= | |
| ENST00000415380.6:c.1050T>C | ENSP00000414979.2:p.Ala350= | |
| ENST00000535005.5:n.1365T>C | ||
| ENST00000538291.5:n.1193T>C | ||
| ENST00000544327.1:c.888T>C | ENSP00000444851.1:p.Ala296= | |
| ENST00000546215.5:c.1050T>C | ENSP00000442862.1:p.Ala350= | |
| NM_001082959.1:c.1050T>C | NP_001076428.1:p.Ala350= | |
| NM_005505.4:c.1050T>C | NP_005496.4:p.Ala350= | |
| NM_005505.5:c.1050T>C MANE Select | NP_005496.4:p.Ala350= | |
| NM_001082959.2:c.1050T>C | NP_001076428.1:p.Ala350= | |
| NM_001367981.1:c.1050T>C | NP_001354910.1:p.Ala350= | |
| NM_001367982.1:c.927T>C | NP_001354911.1:p.Ala309= | |
| NM_001367983.1:c.1050T>C | NP_001354912.1:p.Ala350= | |
| NM_001367984.1:c.1050T>C | NP_001354913.1:p.Ala350= | |
| NM_001367985.1:c.1026T>C | NP_001354914.1:p.Ala342= | |
| NM_001367986.1:c.1050T>C | NP_001354915.1:p.Ala350= | |
| NM_001367987.1:c.1004+7564T>C | NP_001354916.1:n.1004+7564T>C | |
| NM_001367988.1:c.727-4934T>C | NP_001354917.1:n.727-4934T>C | |
| NM_001367989.1:c.1050T>C | NP_001354918.1:p.Ala350= | |
| NR_160416.1:n.1194T>C | ||
| NR_160417.1:n.1194T>C | ||
| NR_160418.1:n.1037+7559T>C | ||
| NR_160419.1:n.1194T>C | ||
| NR_160420.1:n.1078T>C | ||
| NR_160421.1:n.1153+7559T>C | ||
| NR_160422.1:n.1078T>C | ||
| NR_160423.1:n.1154-4934T>C | ||
| NR_160424.1:n.1189T>C |