COSMIC:
COSN19689067 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58654057 (EAS)
Genomes Max Group AF
0.59123326 (EAS)
Exomes Max Group AF
0.58375494 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51034426C>A , CM000681.2:g.51034426C>A | GRCh38 |
| NC_000019.9:g.51537682C>A , CM000681.1:g.51537682C>A | GRCh37 |
| NC_000019.8:g.56229494C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684732.1:c.37+159G>T MANE Select | ENSP00000508282.1:n.37+159G>T | |
| ENST00000250351.4:c.37+159G>T | ENSP00000250351.4:n.37+159G>T | |
| ENST00000319590.8:c.37+159G>T | ENSP00000324181.4:n.37+159G>T | |
| ENST00000525263.5:c.37+159G>T | ENSP00000436458.1:n.37+159G>T | |
| ENST00000526824.5:c.196G>T | ENSP00000434604.1:p.Gly66Trp | |
| ENST00000529888.5:c.37+159G>T | ENSP00000434036.1:n.37+159G>T | |
| ENST00000530943.6:c.196G>T | ENSP00000434339.1:p.Gly66Trp | |
| ENST00000531374.5:c.37+159G>T | ENSP00000436121.1:n.37+159G>T | |
| NM_019598.2:c.37+159G>T | NP_062544.1:n.37+159G>T | |
| NM_145894.1:c.37+159G>T | NP_665901.1:n.37+159G>T | |
| NM_145895.1:c.37+159G>T | NP_665902.1:n.37+159G>T | |
| XM_005258950.2:c.-35G>T | XP_005259007.1:n.-35G>T | |
| XM_005258951.2:c.37+159G>T | XP_005259008.1:n.37+159G>T | |
| XM_005258950.4:c.-35G>T | XP_005259007.1:n.-35G>T | |
| XM_005258951.3:c.37+159G>T | XP_005259008.1:n.37+159G>T | |
| NM_001370125.1:c.37+159G>T MANE Select | NP_001357054.1:n.37+159G>T | |
| NM_001370126.1:c.-35G>T | NP_001357055.1:n.-35G>T | |
| NM_001370127.1:c.-34+159G>T | NP_001357056.1:n.-34+159G>T | |
| NM_001370128.1:c.-35G>T | NP_001357057.1:n.-35G>T | |
| NM_019598.3:c.37+159G>T | NP_062544.1:n.37+159G>T | |
| NM_145894.2:c.37+159G>T | NP_665901.1:n.37+159G>T | |
| NM_145895.2:c.-34+159G>T | NP_665902.2:n.-34+159G>T |