COSMIC:
COSN17132687 (not active)
COSN17133507 (not active)
COSN17138963 (not active)
COSN17141588 (not active)
COSN17143752 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24406002 (EAS)
Genomes Max Group AF
0.24406002 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11807938A>G , CM000674.2:g.11807938A>G | GRCh38 |
| NC_000012.11:g.11960872A>G , CM000674.1:g.11960872A>G | GRCh37 |
| NC_000012.10:g.11852139A>G | NCBI36 |
| NG_011443.1:g.163085A>G , LRG_609:g.163085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396373.9:c.164-31202A>G MANE Select | ENSP00000379658.3:n.164-31202A>G | |
| ENST00000396373.8:c.164-31202A>G | ENSP00000379658.3:n.164-31202A>G | |
| ENST00000541426.1:n.348-17706A>G | ||
| ENST00000545027.1:c.80-31202A>G | ENSP00000441463.1:n.80-31202A>G | |
| NM_001987.4:c.164-31202A>G , LRG_609t1:c.164-31202A>G | NP_001978.1:n.164-31202A>G | |
| XM_011520607.1:c.161-31202A>G | XP_011518909.1:n.161-31202A>G | |
| XM_011520608.1:c.137-31202A>G | XP_011518910.1:n.137-31202A>G | |
| XM_011520611.1:c.-101-31202A>G | XP_011518913.1:n.-101-31202A>G | |
| XM_011520607.2:c.161-31202A>G | XP_011518909.1:n.161-31202A>G | |
| XM_011520608.2:c.137-31202A>G | XP_011518910.1:n.137-31202A>G | |
| XM_011520611.2:c.-101-31202A>G | XP_011518913.1:n.-101-31202A>G | |
| XM_017018990.1:c.164-31202A>G | XP_016874479.1:n.164-31202A>G | |
| XM_017018991.1:c.-1497-17706A>G | XP_016874480.1:n.-1497-17706A>G | |
| NM_001987.5:c.164-31202A>G MANE Select | NP_001978.1:n.164-31202A>G |