Linked Data
ClinVar Variation Id:
2133334
ClinVar RCV Id:
RCV003064015
MyVariant Identifiers:
chr15:g.66782857G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490519G>A , CM000677.2:g.66490519G>A | GRCh38 |
| NC_000015.9:g.66782857G>A , CM000677.1:g.66782857G>A | GRCh37 |
| NC_000015.8:g.64569911G>A | NCBI36 |
| NG_008305.1:g.108647G>A , LRG_725:g.108647G>A | |
| NG_051234.1:g.12297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*134G>A (MAP2K1) | ENSP00000508681.1:n.*134G>A | |
| ENST00000685172.1:c.1040G>A (MAP2K1) | ENSP00000509604.1:p.Arg347Lys | |
| ENST00000685763.1:c.939G>A (MAP2K1) | ENSP00000509016.1:p.Lys313= | |
| ENST00000686347.1:c.759G>A (MAP2K1) | ENSP00000509027.1:p.Lys253= | |
| ENST00000687191.1:n.3366G>A (MAP2K1) | ||
| ENST00000687481.1:n.501G>A (MAP2K1) | ||
| ENST00000688689.1:n.841G>A (MAP2K1) | ||
| ENST00000689951.1:c.1137G>A (MAP2K1) | ENSP00000509308.1:p.Lys379= | |
| ENST00000691077.1:c.*2245G>A (MAP2K1) | ENSP00000509843.1:n.*2245G>A | |
| ENST00000691576.1:c.957G>A (MAP2K1) | ENSP00000510066.1:p.Lys319= | |
| ENST00000691937.1:c.*67G>A (MAP2K1) | ENSP00000508768.1:n.*67G>A | |
| ENST00000692487.1:c.*2686G>A (MAP2K1) | ENSP00000509534.1:n.*2686G>A | |
| ENST00000692683.1:c.1020G>A (MAP2K1) | ENSP00000508437.1:p.Lys340= | |
| ENST00000693150.1:c.942G>A (MAP2K1) | ENSP00000510309.1:p.Lys314= | |
| ENST00000307102.10:c.1086G>A (MAP2K1) MANE Select | ENSP00000302486.5:p.Lys362= | |
| ENST00000307102.9:c.1086G>A (MAP2K1) | ENSP00000302486.4:p.Lys362= | |
| ENST00000395589.6:c.*220C>T (SNAPC5) | ENSP00000378954.2:n.*220C>T | |
| ENST00000563480.6:c.*220C>T (SNAPC5) | ENSP00000457892.1:n.*220C>T | |
| ENST00000566326.1:c.558G>A (MAP2K1) | ENSP00000456438.1:p.Lys186= | |
| NM_002755.3:c.1086G>A , LRG_725t1:c.1086G>A (MAP2K1) | NP_002746.1:p.Lys362= | |
| NM_006049.2:c.*220C>T (SNAPC5) | NP_006040.1:n.*220C>T | |
| XM_011521783.1:c.1020G>A (MAP2K1) | XP_011520085.1:p.Lys340= | |
| NM_006049.3:c.*220C>T (SNAPC5) | NP_006040.1:n.*220C>T | |
| NR_138061.1:n.739C>T (SNAPC5) | ||
| XM_011521783.3:c.1020G>A (MAP2K1) | XP_011520085.1:p.Lys340= | |
| XM_017022411.2:c.1008G>A (MAP2K1) | XP_016877900.1:p.Lys336= | |
| XM_017022412.1:c.942G>A (MAP2K1) | XP_016877901.1:p.Lys314= | |
| XM_017022413.1:c.558G>A (MAP2K1) | XP_016877902.1:p.Lys186= | |
| NM_002755.4:c.1086G>A (MAP2K1) MANE Select | NP_002746.1:p.Lys362= | |
| NM_006049.4:c.*220C>T (SNAPC5) | NP_006040.1:n.*220C>T | |
| NR_138061.2:n.686C>T (SNAPC5) |