Linked Data
ClinVar Variation Id:
375984
ClinVar RCV Id:
RCV000441191
dbSNP Id:
rs1057519735
COSMIC:
COSM235617
PubMed:
PMID:22197931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490577A>C , CM000677.2:g.66490577A>C | GRCh38 |
| NC_000015.9:g.66782915A>C , CM000677.1:g.66782915A>C | GRCh37 |
| NC_000015.8:g.64569969A>C | NCBI36 |
| NG_008305.1:g.108705A>C , LRG_725:g.108705A>C | |
| NG_051234.1:g.12239T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.*192A>C (MAP2K1) | ENSP00000508681.1:n.*192A>C | |
| ENST00000685172.1:c.1098A>C (MAP2K1) | ENSP00000509604.1:p.Leu366Phe | |
| ENST00000685763.1:c.997A>C (MAP2K1) | ENSP00000509016.1:p.Asn333His | |
| ENST00000686347.1:c.817A>C (MAP2K1) | ENSP00000509027.1:p.Asn273His | |
| ENST00000687191.1:n.3424A>C (MAP2K1) | ||
| ENST00000687481.1:n.559A>C (MAP2K1) | ||
| ENST00000688689.1:n.899A>C (MAP2K1) | ||
| ENST00000689951.1:c.1195A>C (MAP2K1) | ENSP00000509308.1:p.Asn399His | |
| ENST00000691077.1:c.*2303A>C (MAP2K1) | ENSP00000509843.1:n.*2303A>C | |
| ENST00000691576.1:c.1015A>C (MAP2K1) | ENSP00000510066.1:p.Asn339His | |
| ENST00000691937.1:c.*125A>C (MAP2K1) | ENSP00000508768.1:n.*125A>C | |
| ENST00000692487.1:c.*2744A>C (MAP2K1) | ENSP00000509534.1:n.*2744A>C | |
| ENST00000692683.1:c.1078A>C (MAP2K1) | ENSP00000508437.1:p.Asn360His | |
| ENST00000693150.1:c.1000A>C (MAP2K1) | ENSP00000510309.1:p.Asn334His | |
| ENST00000307102.10:c.1144A>C (MAP2K1) MANE Select | ENSP00000302486.5:p.Asn382His | |
| ENST00000307102.9:c.1144A>C (MAP2K1) | ENSP00000302486.4:p.Asn382His | |
| ENST00000395589.6:c.*162T>G (SNAPC5) | ENSP00000378954.2:n.*162T>G | |
| ENST00000563480.6:c.*162T>G (SNAPC5) | ENSP00000457892.1:n.*162T>G | |
| ENST00000566326.1:c.616A>C (MAP2K1) | ENSP00000456438.1:p.Asn206His | |
| NM_002755.3:c.1144A>C , LRG_725t1:c.1144A>C (MAP2K1) | NP_002746.1:p.Asn382His | |
| NM_006049.2:c.*162T>G (SNAPC5) | NP_006040.1:n.*162T>G | |
| XM_011521783.1:c.1078A>C (MAP2K1) | XP_011520085.1:p.Asn360His | |
| NM_006049.3:c.*162T>G (SNAPC5) | NP_006040.1:n.*162T>G | |
| NR_138061.1:n.681T>G (SNAPC5) | ||
| XM_011521783.3:c.1078A>C (MAP2K1) | XP_011520085.1:p.Asn360His | |
| XM_017022411.2:c.1066A>C (MAP2K1) | XP_016877900.1:p.Asn356His | |
| XM_017022412.1:c.1000A>C (MAP2K1) | XP_016877901.1:p.Asn334His | |
| XM_017022413.1:c.616A>C (MAP2K1) | XP_016877902.1:p.Asn206His | |
| NM_002755.4:c.1144A>C (MAP2K1) MANE Select | NP_002746.1:p.Asn382His | |
| NM_006049.4:c.*162T>G (SNAPC5) | NP_006040.1:n.*162T>G | |
| NR_138061.2:n.628T>G (SNAPC5) |