Linked Data
ClinVar Variation Id:
2893312
ClinVar RCV Id:
RCV003654640
dbSNP Id:
rs537811569
ExAC:
15:66782878 G / A
gnomAD v2:
15-66782878-G-A
gnomAD v3:
15-66490540-G-A
gnomAD v4:
15-66490540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490540G>A , CM000677.2:g.66490540G>A | GRCh38 |
| NC_000015.9:g.66782878G>A , CM000677.1:g.66782878G>A | GRCh37 |
| NC_000015.8:g.64569932G>A | NCBI36 |
| NG_008305.1:g.108668G>A , LRG_725:g.108668G>A | |
| NG_051234.1:g.12276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*155G>A (MAP2K1) | ENSP00000508681.1:n.*155G>A | |
| ENST00000685172.1:c.1061G>A (MAP2K1) | ENSP00000509604.1:p.Trp354Ter | |
| ENST00000685763.1:c.960G>A (MAP2K1) | ENSP00000509016.1:p.Val320= | |
| ENST00000686347.1:c.780G>A (MAP2K1) | ENSP00000509027.1:p.Val260= | |
| ENST00000687191.1:n.3387G>A (MAP2K1) | ||
| ENST00000687481.1:n.522G>A (MAP2K1) | ||
| ENST00000688689.1:n.862G>A (MAP2K1) | ||
| ENST00000689951.1:c.1158G>A (MAP2K1) | ENSP00000509308.1:p.Val386= | |
| ENST00000691077.1:c.*2266G>A (MAP2K1) | ENSP00000509843.1:n.*2266G>A | |
| ENST00000691576.1:c.978G>A (MAP2K1) | ENSP00000510066.1:p.Val326= | |
| ENST00000691937.1:c.*88G>A (MAP2K1) | ENSP00000508768.1:n.*88G>A | |
| ENST00000692487.1:c.*2707G>A (MAP2K1) | ENSP00000509534.1:n.*2707G>A | |
| ENST00000692683.1:c.1041G>A (MAP2K1) | ENSP00000508437.1:p.Val347= | |
| ENST00000693150.1:c.963G>A (MAP2K1) | ENSP00000510309.1:p.Val321= | |
| ENST00000307102.10:c.1107G>A (MAP2K1) MANE Select | ENSP00000302486.5:p.Val369= | |
| ENST00000307102.9:c.1107G>A (MAP2K1) | ENSP00000302486.4:p.Val369= | |
| ENST00000395589.6:c.*199C>T (SNAPC5) | ENSP00000378954.2:n.*199C>T | |
| ENST00000563480.6:c.*199C>T (SNAPC5) | ENSP00000457892.1:n.*199C>T | |
| ENST00000566326.1:c.579G>A (MAP2K1) | ENSP00000456438.1:p.Val193= | |
| NM_002755.3:c.1107G>A , LRG_725t1:c.1107G>A (MAP2K1) | NP_002746.1:p.Val369= | |
| NM_006049.2:c.*199C>T (SNAPC5) | NP_006040.1:n.*199C>T | |
| XM_011521783.1:c.1041G>A (MAP2K1) | XP_011520085.1:p.Val347= | |
| NM_006049.3:c.*199C>T (SNAPC5) | NP_006040.1:n.*199C>T | |
| NR_138061.1:n.718C>T (SNAPC5) | ||
| XM_011521783.3:c.1041G>A (MAP2K1) | XP_011520085.1:p.Val347= | |
| XM_017022411.2:c.1029G>A (MAP2K1) | XP_016877900.1:p.Val343= | |
| XM_017022412.1:c.963G>A (MAP2K1) | XP_016877901.1:p.Val321= | |
| XM_017022413.1:c.579G>A (MAP2K1) | XP_016877902.1:p.Val193= | |
| NM_002755.4:c.1107G>A (MAP2K1) MANE Select | NP_002746.1:p.Val369= | |
| NM_006049.4:c.*199C>T (SNAPC5) | NP_006040.1:n.*199C>T | |
| NR_138061.2:n.665C>T (SNAPC5) |