Linked Data
ClinVar Variation Id:
1778632
ClinVar RCV Id:
RCV002398966
dbSNP Id:
rs1336147749
gnomAD v2:
15-66782089-G-A
gnomAD v4:
15-66489751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66489751G>A , CM000677.2:g.66489751G>A | GRCh38 |
| NC_000015.9:g.66782089G>A , CM000677.1:g.66782089G>A | GRCh37 |
| NC_000015.8:g.64569143G>A | NCBI36 |
| NG_008305.1:g.107879G>A , LRG_725:g.107879G>A | |
| NG_051234.1:g.13065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*104G>A (MAP2K1) | ENSP00000508681.1:n.*104G>A | |
| ENST00000685172.1:c.1022+475G>A (MAP2K1) | ENSP00000509604.1:n.1022+475G>A | |
| ENST00000685763.1:c.909G>A (MAP2K1) | ENSP00000509016.1:p.Leu303= | |
| ENST00000686347.1:c.729G>A (MAP2K1) | ENSP00000509027.1:p.Leu243= | |
| ENST00000687191.1:n.3336G>A (MAP2K1) | ||
| ENST00000687481.1:n.471G>A (MAP2K1) | ||
| ENST00000688689.1:n.811G>A (MAP2K1) | ||
| ENST00000689951.1:c.1107G>A (MAP2K1) | ENSP00000509308.1:p.Leu369= | |
| ENST00000691077.1:c.*2215G>A (MAP2K1) | ENSP00000509843.1:n.*2215G>A | |
| ENST00000691576.1:c.927G>A (MAP2K1) | ENSP00000510066.1:p.Leu309= | |
| ENST00000691937.1:c.*37G>A (MAP2K1) | ENSP00000508768.1:n.*37G>A | |
| ENST00000692487.1:c.*2656G>A (MAP2K1) | ENSP00000509534.1:n.*2656G>A | |
| ENST00000692683.1:c.990G>A (MAP2K1) | ENSP00000508437.1:p.Leu330= | |
| ENST00000693150.1:c.912G>A (MAP2K1) | ENSP00000510309.1:p.Leu304= | |
| ENST00000307102.10:c.1056G>A (MAP2K1) MANE Select | ENSP00000302486.5:p.Leu352= | |
| ENST00000307102.9:c.1056G>A (MAP2K1) | ENSP00000302486.4:p.Leu352= | |
| ENST00000566326.1:c.528G>A (MAP2K1) | ENSP00000456438.1:p.Leu176= | |
| NM_002755.3:c.1056G>A , LRG_725t1:c.1056G>A (MAP2K1) | NP_002746.1:p.Leu352= | |
| XM_011521783.1:c.990G>A (MAP2K1) | XP_011520085.1:p.Leu330= | |
| NM_006049.3:c.*988C>T (SNAPC5) | NP_006040.1:n.*988C>T | |
| NR_138061.1:n.1507C>T (SNAPC5) | ||
| XM_011521783.3:c.990G>A (MAP2K1) | XP_011520085.1:p.Leu330= | |
| XM_017022411.2:c.978G>A (MAP2K1) | XP_016877900.1:p.Leu326= | |
| XM_017022412.1:c.912G>A (MAP2K1) | XP_016877901.1:p.Leu304= | |
| XM_017022413.1:c.528G>A (MAP2K1) | XP_016877902.1:p.Leu176= | |
| NM_002755.4:c.1056G>A (MAP2K1) MANE Select | NP_002746.1:p.Leu352= | |
| NM_006049.4:c.*988C>T (SNAPC5) | NP_006040.1:n.*988C>T | |
| NR_138061.2:n.1454C>T (SNAPC5) |