Linked Data
ClinVar Variation Id:
378102
dbSNP Id:
rs369137482
ExAC:
15:66782119 G / A
gnomAD v2:
15-66782119-G-A
gnomAD v3:
15-66489781-G-A
gnomAD v4:
15-66489781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66489781G>A , CM000677.2:g.66489781G>A | GRCh38 |
| NC_000015.9:g.66782119G>A , CM000677.1:g.66782119G>A | GRCh37 |
| NC_000015.8:g.64569173G>A | NCBI36 |
| NG_008305.1:g.107909G>A , LRG_725:g.107909G>A | |
| NG_051234.1:g.13035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*116+18G>A (MAP2K1) | ENSP00000508681.1:n.*116+18G>A | |
| ENST00000685172.1:c.1022+505G>A (MAP2K1) | ENSP00000509604.1:n.1022+505G>A | |
| ENST00000685763.1:c.921+18G>A (MAP2K1) | ENSP00000509016.1:n.921+18G>A | |
| ENST00000686347.1:c.741+18G>A (MAP2K1) | ENSP00000509027.1:n.741+18G>A | |
| ENST00000687191.1:n.3348+18G>A (MAP2K1) | ||
| ENST00000687481.1:n.483+18G>A (MAP2K1) | ||
| ENST00000688689.1:n.823+18G>A (MAP2K1) | ||
| ENST00000689951.1:c.1119+18G>A (MAP2K1) | ENSP00000509308.1:n.1119+18G>A | |
| ENST00000691077.1:c.*2227+18G>A (MAP2K1) | ENSP00000509843.1:n.*2227+18G>A | |
| ENST00000691576.1:c.939+18G>A (MAP2K1) | ENSP00000510066.1:n.939+18G>A | |
| ENST00000691937.1:c.*49+18G>A (MAP2K1) | ENSP00000508768.1:n.*49+18G>A | |
| ENST00000692487.1:c.*2668+18G>A (MAP2K1) | ENSP00000509534.1:n.*2668+18G>A | |
| ENST00000692683.1:c.1002+18G>A (MAP2K1) | ENSP00000508437.1:n.1002+18G>A | |
| ENST00000693150.1:c.924+18G>A (MAP2K1) | ENSP00000510309.1:n.924+18G>A | |
| ENST00000307102.10:c.1068+18G>A (MAP2K1) MANE Select | ENSP00000302486.5:n.1068+18G>A | |
| ENST00000307102.9:c.1068+18G>A (MAP2K1) | ENSP00000302486.4:n.1068+18G>A | |
| ENST00000566326.1:c.540+18G>A (MAP2K1) | ENSP00000456438.1:n.540+18G>A | |
| NM_002755.3:c.1068+18G>A , LRG_725t1:c.1068+18G>A (MAP2K1) | NP_002746.1:n.1068+18G>A | |
| XM_011521783.1:c.1002+18G>A (MAP2K1) | XP_011520085.1:n.1002+18G>A | |
| NM_006049.3:c.*958C>T (SNAPC5) | NP_006040.1:n.*958C>T | |
| NR_138061.1:n.1477C>T (SNAPC5) | ||
| XM_011521783.3:c.1002+18G>A (MAP2K1) | XP_011520085.1:n.1002+18G>A | |
| XM_017022411.2:c.990+18G>A (MAP2K1) | XP_016877900.1:n.990+18G>A | |
| XM_017022412.1:c.924+18G>A (MAP2K1) | XP_016877901.1:n.924+18G>A | |
| XM_017022413.1:c.540+18G>A (MAP2K1) | XP_016877902.1:n.540+18G>A | |
| NM_002755.4:c.1068+18G>A (MAP2K1) MANE Select | NP_002746.1:n.1068+18G>A | |
| NM_006049.4:c.*958C>T (SNAPC5) | NP_006040.1:n.*958C>T | |
| NR_138061.2:n.1424C>T (SNAPC5) |