Linked Data
ClinVar Variation Id:
448949
dbSNP Id:
rs200293968
ExAC:
15:66782869 T / C
gnomAD v2:
15-66782869-T-C
gnomAD v3:
15-66490531-T-C
gnomAD v4:
15-66490531-T-C
ERepo:
CA7624163/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490531T>C , CM000677.2:g.66490531T>C | GRCh38 |
| NC_000015.9:g.66782869T>C , CM000677.1:g.66782869T>C | GRCh37 |
| NC_000015.8:g.64569923T>C | NCBI36 |
| NG_008305.1:g.108659T>C , LRG_725:g.108659T>C | |
| NG_051234.1:g.12285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*146T>C (MAP2K1) | ENSP00000508681.1:n.*146T>C | |
| ENST00000685172.1:c.1052T>C (MAP2K1) | ENSP00000509604.1:p.Leu351Pro | |
| ENST00000685763.1:c.951T>C (MAP2K1) | ENSP00000509016.1:p.Ala317= | |
| ENST00000686347.1:c.771T>C (MAP2K1) | ENSP00000509027.1:p.Ala257= | |
| ENST00000687191.1:n.3378T>C (MAP2K1) | ||
| ENST00000687481.1:n.513T>C (MAP2K1) | ||
| ENST00000688689.1:n.853T>C (MAP2K1) | ||
| ENST00000689951.1:c.1149T>C (MAP2K1) | ENSP00000509308.1:p.Ala383= | |
| ENST00000691077.1:c.*2257T>C (MAP2K1) | ENSP00000509843.1:n.*2257T>C | |
| ENST00000691576.1:c.969T>C (MAP2K1) | ENSP00000510066.1:p.Ala323= | |
| ENST00000691937.1:c.*79T>C (MAP2K1) | ENSP00000508768.1:n.*79T>C | |
| ENST00000692487.1:c.*2698T>C (MAP2K1) | ENSP00000509534.1:n.*2698T>C | |
| ENST00000692683.1:c.1032T>C (MAP2K1) | ENSP00000508437.1:p.Ala344= | |
| ENST00000693150.1:c.954T>C (MAP2K1) | ENSP00000510309.1:p.Ala318= | |
| ENST00000307102.10:c.1098T>C (MAP2K1) MANE Select | ENSP00000302486.5:p.Ala366= | |
| ENST00000307102.9:c.1098T>C (MAP2K1) | ENSP00000302486.4:p.Ala366= | |
| ENST00000395589.6:c.*208A>G (SNAPC5) | ENSP00000378954.2:n.*208A>G | |
| ENST00000563480.6:c.*208A>G (SNAPC5) | ENSP00000457892.1:n.*208A>G | |
| ENST00000566326.1:c.570T>C (MAP2K1) | ENSP00000456438.1:p.Ala190= | |
| NM_002755.3:c.1098T>C , LRG_725t1:c.1098T>C (MAP2K1) | NP_002746.1:p.Ala366= | |
| NM_006049.2:c.*208A>G (SNAPC5) | NP_006040.1:n.*208A>G | |
| XM_011521783.1:c.1032T>C (MAP2K1) | XP_011520085.1:p.Ala344= | |
| NM_006049.3:c.*208A>G (SNAPC5) | NP_006040.1:n.*208A>G | |
| NR_138061.1:n.727A>G (SNAPC5) | ||
| XM_011521783.3:c.1032T>C (MAP2K1) | XP_011520085.1:p.Ala344= | |
| XM_017022411.2:c.1020T>C (MAP2K1) | XP_016877900.1:p.Ala340= | |
| XM_017022412.1:c.954T>C (MAP2K1) | XP_016877901.1:p.Ala318= | |
| XM_017022413.1:c.570T>C (MAP2K1) | XP_016877902.1:p.Ala190= | |
| NM_002755.4:c.1098T>C (MAP2K1) MANE Select | NP_002746.1:p.Ala366= | |
| NM_006049.4:c.*208A>G (SNAPC5) | NP_006040.1:n.*208A>G | |
| NR_138061.2:n.674A>G (SNAPC5) |