COSMIC:
COSN19617523 (not active)
COSN19619458 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25166856 (SAS)
Genomes Max Group AF
0.2352347 (SAS)
Exomes Max Group AF
0.2521819 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80151081G>A , CM000667.2:g.80151081G>A | GRCh38 |
| NC_000005.9:g.79446904G>A , CM000667.1:g.79446904G>A | GRCh37 |
| NC_000005.8:g.79482660G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507668.7:c.987-133C>T MANE Select | ENSP00000426237.3:n.987-133C>T | |
| ENST00000507668.6:c.987-133C>T | ENSP00000426237.3:n.987-133C>T | |
| ENST00000509193.5:c.987-133C>T | ENSP00000426134.2:n.987-133C>T | |
| ENST00000512721.2:c.987-133C>T | ENSP00000420863.2:n.987-133C>T | |
| ENST00000512972.6:c.987-133C>T | ENSP00000421665.2:n.987-133C>T | |
| ENST00000632581.1:c.981-133C>T | ENSP00000488864.1:n.981-133C>T | |
| NM_001174071.2:c.987-133C>T | NP_001167542.1:n.987-133C>T | |
| NM_001174072.2:c.987-133C>T | NP_001167543.1:n.987-133C>T | |
| NM_178276.6:c.987-133C>T | NP_840060.1:n.987-133C>T | |
| NR_126060.1:n.1141-133C>T | ||
| NR_126061.1:n.1147-133C>T | ||
| XM_011543304.1:c.987-133C>T | XP_011541606.1:n.987-133C>T | |
| XM_017009323.1:c.876-133C>T | XP_016864812.1:n.876-133C>T | |
| XM_017009324.1:c.876-133C>T | XP_016864813.1:n.876-133C>T | |
| XM_017009326.2:c.309-133C>T | XP_016864815.1:n.309-133C>T | |
| XM_024446013.1:c.309-133C>T | XP_024301781.1:n.309-133C>T | |
| NM_001174072.3:c.987-133C>T MANE Select | NP_001167543.1:n.987-133C>T | |
| NM_001174071.3:c.987-133C>T | NP_001167542.1:n.987-133C>T | |
| NM_178276.7:c.987-133C>T | NP_840060.1:n.987-133C>T | |
| NR_126060.2:n.1107-133C>T | ||
| NR_126061.2:n.1113-133C>T |