COSMIC:
COSN16066113 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30756699 (AFR)
Genomes Max Group AF
0.30756699 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47612921A>G , CM000668.2:g.47612921A>G | GRCh38 |
| NC_000006.11:g.47580657A>G , CM000668.1:g.47580657A>G | GRCh37 |
| NC_000006.10:g.47688616A>G | NCBI36 |
| NG_008878.1:g.140133A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.1878+385A>G MANE Select | ENSP00000352264.5:n.1878+385A>G | |
| NM_012120.2:c.1878+385A>G | NP_036252.1:n.1878+385A>G | |
| XM_005248976.1:c.1866+385A>G | XP_005249033.1:n.1866+385A>G | |
| XM_005248977.2:c.1814+3617A>G | XP_005249034.1:n.1814+3617A>G | |
| XM_011514449.1:c.1731+385A>G | XP_011512751.1:n.1731+385A>G | |
| XM_011514449.2:c.1731+385A>G | XP_011512751.1:n.1731+385A>G | |
| NM_012120.3:c.1878+385A>G MANE Select | NP_036252.1:n.1878+385A>G |