Linked Data
ClinVar Variation Id:
40762
dbSNP Id:
rs150841154
ExAC:
15:66782908 C / T
gnomAD v2:
15-66782908-C-T
gnomAD v3:
15-66490570-C-T
gnomAD v4:
15-66490570-C-T
ERepo:
CA134592/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490570C>T , CM000677.2:g.66490570C>T | GRCh38 |
| NC_000015.9:g.66782908C>T , CM000677.1:g.66782908C>T | GRCh37 |
| NC_000015.8:g.64569962C>T | NCBI36 |
| NG_008305.1:g.108698C>T , LRG_725:g.108698C>T | |
| NG_051234.1:g.12246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*185C>T (MAP2K1) | ENSP00000508681.1:n.*185C>T | |
| ENST00000685172.1:c.1091C>T (MAP2K1) | ENSP00000509604.1:p.Ser364Leu | |
| ENST00000685763.1:c.990C>T (MAP2K1) | ENSP00000509016.1:p.Ile330= | |
| ENST00000686347.1:c.810C>T (MAP2K1) | ENSP00000509027.1:p.Ile270= | |
| ENST00000687191.1:n.3417C>T (MAP2K1) | ||
| ENST00000687481.1:n.552C>T (MAP2K1) | ||
| ENST00000688689.1:n.892C>T (MAP2K1) | ||
| ENST00000689951.1:c.1188C>T (MAP2K1) | ENSP00000509308.1:p.Ile396= | |
| ENST00000691077.1:c.*2296C>T (MAP2K1) | ENSP00000509843.1:n.*2296C>T | |
| ENST00000691576.1:c.1008C>T (MAP2K1) | ENSP00000510066.1:p.Ile336= | |
| ENST00000691937.1:c.*118C>T (MAP2K1) | ENSP00000508768.1:n.*118C>T | |
| ENST00000692487.1:c.*2737C>T (MAP2K1) | ENSP00000509534.1:n.*2737C>T | |
| ENST00000692683.1:c.1071C>T (MAP2K1) | ENSP00000508437.1:p.Ile357= | |
| ENST00000693150.1:c.993C>T (MAP2K1) | ENSP00000510309.1:p.Ile331= | |
| ENST00000307102.10:c.1137C>T (MAP2K1) MANE Select | ENSP00000302486.5:p.Ile379= | |
| ENST00000307102.9:c.1137C>T (MAP2K1) | ENSP00000302486.4:p.Ile379= | |
| ENST00000395589.6:c.*169G>A (SNAPC5) | ENSP00000378954.2:n.*169G>A | |
| ENST00000563480.6:c.*169G>A (SNAPC5) | ENSP00000457892.1:n.*169G>A | |
| ENST00000566326.1:c.609C>T (MAP2K1) | ENSP00000456438.1:p.Ile203= | |
| NM_002755.3:c.1137C>T , LRG_725t1:c.1137C>T (MAP2K1) | NP_002746.1:p.Ile379= | |
| NM_006049.2:c.*169G>A (SNAPC5) | NP_006040.1:n.*169G>A | |
| XM_011521783.1:c.1071C>T (MAP2K1) | XP_011520085.1:p.Ile357= | |
| NM_006049.3:c.*169G>A (SNAPC5) | NP_006040.1:n.*169G>A | |
| NR_138061.1:n.688G>A (SNAPC5) | ||
| XM_011521783.3:c.1071C>T (MAP2K1) | XP_011520085.1:p.Ile357= | |
| XM_017022411.2:c.1059C>T (MAP2K1) | XP_016877900.1:p.Ile353= | |
| XM_017022412.1:c.993C>T (MAP2K1) | XP_016877901.1:p.Ile331= | |
| XM_017022413.1:c.609C>T (MAP2K1) | XP_016877902.1:p.Ile203= | |
| NM_002755.4:c.1137C>T (MAP2K1) MANE Select | NP_002746.1:p.Ile379= | |
| NM_006049.4:c.*169G>A (SNAPC5) | NP_006040.1:n.*169G>A | |
| NR_138061.2:n.635G>A (SNAPC5) |