COSMIC:
COSN20494605 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38573392 (SAS)
Genomes Max Group AF
0.3801569 (SAS)
Exomes Max Group AF
0.38528569 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72074194G>A , CM000678.2:g.72074194G>A | GRCh38 |
| NC_000016.9:g.72108093G>A , CM000678.1:g.72108093G>A | GRCh37 |
| NC_000016.8:g.70665594G>A | NCBI36 |
| NG_030311.1:g.15969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540303.7:c.92-90G>A (HPR) MANE Select | ENSP00000441828.2:n.92-90G>A | |
| ENST00000649683.1:c.*195-90G>A (HPR) | ENSP00000497360.1:n.*195-90G>A | |
| ENST00000356967.6:c.19-90G>A (HPR) | ENSP00000349451.6:n.19-90G>A | |
| ENST00000540303.6:c.92-90G>A (HPR) | ENSP00000441828.2:n.92-90G>A | |
| ENST00000561690.1:c.92-90G>A (HPR) | ENSP00000462916.1:n.92-90G>A | |
| ENST00000562153.5:c.284+14793C>T (TXNL4B) | ENSP00000454635.1:n.284+14793C>T | |
| ENST00000566168.1:n.122-90G>A (HPR) | ||
| NM_020995.3:c.92-90G>A (HPR) | NP_066275.3:n.92-90G>A | |
| XM_011523062.1:c.110-90G>A (HPR) | XP_011521364.1:n.110-90G>A | |
| XM_017023377.2:c.284+14793C>T (TXNL4B) | XP_016878866.1:n.284+14793C>T | |
| XM_024450251.1:c.110-90G>A (HPR) | XP_024306019.1:n.110-90G>A | |
| NM_001384360.1:c.-269-90G>A (HPR) | NP_001371289.1:n.-269-90G>A | |
| NM_020995.4:c.92-90G>A (HPR) MANE Select | NP_066275.3:n.92-90G>A |