gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016795 (AMR)
Genomes Max Group AF
0.0001292 (AMR)
Exomes Max Group AF
0.00013797 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66489772A>G , CM000677.2:g.66489772A>G | GRCh38 |
| NC_000015.9:g.66782110A>G , CM000677.1:g.66782110A>G | GRCh37 |
| NC_000015.8:g.64569164A>G | NCBI36 |
| NG_008305.1:g.107900A>G , LRG_725:g.107900A>G | |
| NG_051234.1:g.13044T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*116+9A>G (MAP2K1) | ENSP00000508681.1:n.*116+9A>G | |
| ENST00000685172.1:c.1022+496A>G (MAP2K1) | ENSP00000509604.1:n.1022+496A>G | |
| ENST00000685763.1:c.921+9A>G (MAP2K1) | ENSP00000509016.1:n.921+9A>G | |
| ENST00000686347.1:c.741+9A>G (MAP2K1) | ENSP00000509027.1:n.741+9A>G | |
| ENST00000687191.1:n.3348+9A>G (MAP2K1) | ||
| ENST00000687481.1:n.483+9A>G (MAP2K1) | ||
| ENST00000688689.1:n.823+9A>G (MAP2K1) | ||
| ENST00000689951.1:c.1119+9A>G (MAP2K1) | ENSP00000509308.1:n.1119+9A>G | |
| ENST00000691077.1:c.*2227+9A>G (MAP2K1) | ENSP00000509843.1:n.*2227+9A>G | |
| ENST00000691576.1:c.939+9A>G (MAP2K1) | ENSP00000510066.1:n.939+9A>G | |
| ENST00000691937.1:c.*49+9A>G (MAP2K1) | ENSP00000508768.1:n.*49+9A>G | |
| ENST00000692487.1:c.*2668+9A>G (MAP2K1) | ENSP00000509534.1:n.*2668+9A>G | |
| ENST00000692683.1:c.1002+9A>G (MAP2K1) | ENSP00000508437.1:n.1002+9A>G | |
| ENST00000693150.1:c.924+9A>G (MAP2K1) | ENSP00000510309.1:n.924+9A>G | |
| ENST00000307102.10:c.1068+9A>G (MAP2K1) MANE Select | ENSP00000302486.5:n.1068+9A>G | |
| ENST00000307102.9:c.1068+9A>G (MAP2K1) | ENSP00000302486.4:n.1068+9A>G | |
| ENST00000566326.1:c.540+9A>G (MAP2K1) | ENSP00000456438.1:n.540+9A>G | |
| NM_002755.3:c.1068+9A>G , LRG_725t1:c.1068+9A>G (MAP2K1) | NP_002746.1:n.1068+9A>G | |
| XM_011521783.1:c.1002+9A>G (MAP2K1) | XP_011520085.1:n.1002+9A>G | |
| NM_006049.3:c.*967T>C (SNAPC5) | NP_006040.1:n.*967T>C | |
| NR_138061.1:n.1486T>C (SNAPC5) | ||
| XM_011521783.3:c.1002+9A>G (MAP2K1) | XP_011520085.1:n.1002+9A>G | |
| XM_017022411.2:c.990+9A>G (MAP2K1) | XP_016877900.1:n.990+9A>G | |
| XM_017022412.1:c.924+9A>G (MAP2K1) | XP_016877901.1:n.924+9A>G | |
| XM_017022413.1:c.540+9A>G (MAP2K1) | XP_016877902.1:n.540+9A>G | |
| NM_002755.4:c.1068+9A>G (MAP2K1) MANE Select | NP_002746.1:n.1068+9A>G | |
| NM_006049.4:c.*967T>C (SNAPC5) | NP_006040.1:n.*967T>C | |
| NR_138061.2:n.1433T>C (SNAPC5) |