Linked Data
ClinVar Variation Id:
1978836
ClinVar RCV Id:
RCV002775152
dbSNP Id:
rs758866695
ExAC:
15:66782914 T / A
gnomAD v4:
15-66490576-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490576T>A , CM000677.2:g.66490576T>A | GRCh38 |
| NC_000015.9:g.66782914T>A , CM000677.1:g.66782914T>A | GRCh37 |
| NC_000015.8:g.64569968T>A | NCBI36 |
| NG_008305.1:g.108704T>A , LRG_725:g.108704T>A | |
| NG_051234.1:g.12240A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*191T>A (MAP2K1) | ENSP00000508681.1:n.*191T>A | |
| ENST00000685172.1:c.1097T>A (MAP2K1) | ENSP00000509604.1:p.Leu366Ter | |
| ENST00000685763.1:c.996T>A (MAP2K1) | ENSP00000509016.1:p.Leu332= | |
| ENST00000686347.1:c.816T>A (MAP2K1) | ENSP00000509027.1:p.Leu272= | |
| ENST00000687191.1:n.3423T>A (MAP2K1) | ||
| ENST00000687481.1:n.558T>A (MAP2K1) | ||
| ENST00000688689.1:n.898T>A (MAP2K1) | ||
| ENST00000689951.1:c.1194T>A (MAP2K1) | ENSP00000509308.1:p.Leu398= | |
| ENST00000691077.1:c.*2302T>A (MAP2K1) | ENSP00000509843.1:n.*2302T>A | |
| ENST00000691576.1:c.1014T>A (MAP2K1) | ENSP00000510066.1:p.Leu338= | |
| ENST00000691937.1:c.*124T>A (MAP2K1) | ENSP00000508768.1:n.*124T>A | |
| ENST00000692487.1:c.*2743T>A (MAP2K1) | ENSP00000509534.1:n.*2743T>A | |
| ENST00000692683.1:c.1077T>A (MAP2K1) | ENSP00000508437.1:p.Leu359= | |
| ENST00000693150.1:c.999T>A (MAP2K1) | ENSP00000510309.1:p.Leu333= | |
| ENST00000307102.10:c.1143T>A (MAP2K1) MANE Select | ENSP00000302486.5:p.Leu381= | |
| ENST00000307102.9:c.1143T>A (MAP2K1) | ENSP00000302486.4:p.Leu381= | |
| ENST00000395589.6:c.*163A>T (SNAPC5) | ENSP00000378954.2:n.*163A>T | |
| ENST00000563480.6:c.*163A>T (SNAPC5) | ENSP00000457892.1:n.*163A>T | |
| ENST00000566326.1:c.615T>A (MAP2K1) | ENSP00000456438.1:p.Leu205= | |
| NM_002755.3:c.1143T>A , LRG_725t1:c.1143T>A (MAP2K1) | NP_002746.1:p.Leu381= | |
| NM_006049.2:c.*163A>T (SNAPC5) | NP_006040.1:n.*163A>T | |
| XM_011521783.1:c.1077T>A (MAP2K1) | XP_011520085.1:p.Leu359= | |
| NM_006049.3:c.*163A>T (SNAPC5) | NP_006040.1:n.*163A>T | |
| NR_138061.1:n.682A>T (SNAPC5) | ||
| XM_011521783.3:c.1077T>A (MAP2K1) | XP_011520085.1:p.Leu359= | |
| XM_017022411.2:c.1065T>A (MAP2K1) | XP_016877900.1:p.Leu355= | |
| XM_017022412.1:c.999T>A (MAP2K1) | XP_016877901.1:p.Leu333= | |
| XM_017022413.1:c.615T>A (MAP2K1) | XP_016877902.1:p.Leu205= | |
| NM_002755.4:c.1143T>A (MAP2K1) MANE Select | NP_002746.1:p.Leu381= | |
| NM_006049.4:c.*163A>T (SNAPC5) | NP_006040.1:n.*163A>T | |
| NR_138061.2:n.629A>T (SNAPC5) |