Linked Data
ClinVar Variation Id:
1902241
ClinVar RCV Id:
RCV002580138
dbSNP Id:
rs781412352
ExAC:
15:66782828 C / A
gnomAD v2:
15-66782828-C-A
gnomAD v3:
15-66490490-C-A
gnomAD v4:
15-66490490-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490490C>A , CM000677.2:g.66490490C>A | GRCh38 |
| NC_000015.9:g.66782828C>A , CM000677.1:g.66782828C>A | GRCh37 |
| NC_000015.8:g.64569882C>A | NCBI36 |
| NG_008305.1:g.108618C>A , LRG_725:g.108618C>A | |
| NG_051234.1:g.12326G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*117-12C>A (MAP2K1) | ENSP00000508681.1:n.*117-12C>A | |
| ENST00000685172.1:c.1023-12C>A (MAP2K1) | ENSP00000509604.1:n.1023-12C>A | |
| ENST00000685763.1:c.922-12C>A (MAP2K1) | ENSP00000509016.1:n.922-12C>A | |
| ENST00000686347.1:c.742-12C>A (MAP2K1) | ENSP00000509027.1:n.742-12C>A | |
| ENST00000687191.1:n.3349-12C>A (MAP2K1) | ||
| ENST00000687481.1:n.484-12C>A (MAP2K1) | ||
| ENST00000688689.1:n.824-12C>A (MAP2K1) | ||
| ENST00000689951.1:c.1120-12C>A (MAP2K1) | ENSP00000509308.1:n.1120-12C>A | |
| ENST00000691077.1:c.*2228-12C>A (MAP2K1) | ENSP00000509843.1:n.*2228-12C>A | |
| ENST00000691576.1:c.940-12C>A (MAP2K1) | ENSP00000510066.1:n.940-12C>A | |
| ENST00000691937.1:c.*50-12C>A (MAP2K1) | ENSP00000508768.1:n.*50-12C>A | |
| ENST00000692487.1:c.*2669-12C>A (MAP2K1) | ENSP00000509534.1:n.*2669-12C>A | |
| ENST00000692683.1:c.1003-12C>A (MAP2K1) | ENSP00000508437.1:n.1003-12C>A | |
| ENST00000693150.1:c.925-12C>A (MAP2K1) | ENSP00000510309.1:n.925-12C>A | |
| ENST00000307102.10:c.1069-12C>A (MAP2K1) MANE Select | ENSP00000302486.5:n.1069-12C>A | |
| ENST00000307102.9:c.1069-12C>A (MAP2K1) | ENSP00000302486.4:n.1069-12C>A | |
| ENST00000395589.6:c.*249G>T (SNAPC5) | ENSP00000378954.2:n.*249G>T | |
| ENST00000563480.6:c.*249G>T (SNAPC5) | ENSP00000457892.1:n.*249G>T | |
| ENST00000566326.1:c.541-12C>A (MAP2K1) | ENSP00000456438.1:n.541-12C>A | |
| NM_002755.3:c.1069-12C>A , LRG_725t1:c.1069-12C>A (MAP2K1) | NP_002746.1:n.1069-12C>A | |
| NM_006049.2:c.*249G>T (SNAPC5) | NP_006040.1:n.*249G>T | |
| XM_011521783.1:c.1003-12C>A (MAP2K1) | XP_011520085.1:n.1003-12C>A | |
| NM_006049.3:c.*249G>T (SNAPC5) | NP_006040.1:n.*249G>T | |
| NR_138061.1:n.768G>T (SNAPC5) | ||
| XM_011521783.3:c.1003-12C>A (MAP2K1) | XP_011520085.1:n.1003-12C>A | |
| XM_017022411.2:c.991-12C>A (MAP2K1) | XP_016877900.1:n.991-12C>A | |
| XM_017022412.1:c.925-12C>A (MAP2K1) | XP_016877901.1:n.925-12C>A | |
| XM_017022413.1:c.541-12C>A (MAP2K1) | XP_016877902.1:n.541-12C>A | |
| NM_002755.4:c.1069-12C>A (MAP2K1) MANE Select | NP_002746.1:n.1069-12C>A | |
| NM_006049.4:c.*249G>T (SNAPC5) | NP_006040.1:n.*249G>T | |
| NR_138061.2:n.715G>T (SNAPC5) |