Linked Data
ClinVar Variation Id:
1963559
ClinVar RCV Id:
RCV002740085
gnomAD v4:
15-66490543-T-C
MyVariant Identifiers:
chr15:g.66782881T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490543T>C , CM000677.2:g.66490543T>C | GRCh38 |
| NC_000015.9:g.66782881T>C , CM000677.1:g.66782881T>C | GRCh37 |
| NC_000015.8:g.64569935T>C | NCBI36 |
| NG_008305.1:g.108671T>C , LRG_725:g.108671T>C | |
| NG_051234.1:g.12273A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*158T>C (MAP2K1) | ENSP00000508681.1:n.*158T>C | |
| ENST00000685172.1:c.1064T>C (MAP2K1) | ENSP00000509604.1:p.Ile355Thr | |
| ENST00000685763.1:c.963T>C (MAP2K1) | ENSP00000509016.1:p.Asp321= | |
| ENST00000686347.1:c.783T>C (MAP2K1) | ENSP00000509027.1:p.Asp261= | |
| ENST00000687191.1:n.3390T>C (MAP2K1) | ||
| ENST00000687481.1:n.525T>C (MAP2K1) | ||
| ENST00000688689.1:n.865T>C (MAP2K1) | ||
| ENST00000689951.1:c.1161T>C (MAP2K1) | ENSP00000509308.1:p.Asp387= | |
| ENST00000691077.1:c.*2269T>C (MAP2K1) | ENSP00000509843.1:n.*2269T>C | |
| ENST00000691576.1:c.981T>C (MAP2K1) | ENSP00000510066.1:p.Asp327= | |
| ENST00000691937.1:c.*91T>C (MAP2K1) | ENSP00000508768.1:n.*91T>C | |
| ENST00000692487.1:c.*2710T>C (MAP2K1) | ENSP00000509534.1:n.*2710T>C | |
| ENST00000692683.1:c.1044T>C (MAP2K1) | ENSP00000508437.1:p.Asp348= | |
| ENST00000693150.1:c.966T>C (MAP2K1) | ENSP00000510309.1:p.Asp322= | |
| ENST00000307102.10:c.1110T>C (MAP2K1) MANE Select | ENSP00000302486.5:p.Asp370= | |
| ENST00000307102.9:c.1110T>C (MAP2K1) | ENSP00000302486.4:p.Asp370= | |
| ENST00000395589.6:c.*196A>G (SNAPC5) | ENSP00000378954.2:n.*196A>G | |
| ENST00000563480.6:c.*196A>G (SNAPC5) | ENSP00000457892.1:n.*196A>G | |
| ENST00000566326.1:c.582T>C (MAP2K1) | ENSP00000456438.1:p.Asp194= | |
| NM_002755.3:c.1110T>C , LRG_725t1:c.1110T>C (MAP2K1) | NP_002746.1:p.Asp370= | |
| NM_006049.2:c.*196A>G (SNAPC5) | NP_006040.1:n.*196A>G | |
| XM_011521783.1:c.1044T>C (MAP2K1) | XP_011520085.1:p.Asp348= | |
| NM_006049.3:c.*196A>G (SNAPC5) | NP_006040.1:n.*196A>G | |
| NR_138061.1:n.715A>G (SNAPC5) | ||
| XM_011521783.3:c.1044T>C (MAP2K1) | XP_011520085.1:p.Asp348= | |
| XM_017022411.2:c.1032T>C (MAP2K1) | XP_016877900.1:p.Asp344= | |
| XM_017022412.1:c.966T>C (MAP2K1) | XP_016877901.1:p.Asp322= | |
| XM_017022413.1:c.582T>C (MAP2K1) | XP_016877902.1:p.Asp194= | |
| NM_002755.4:c.1110T>C (MAP2K1) MANE Select | NP_002746.1:p.Asp370= | |
| NM_006049.4:c.*196A>G (SNAPC5) | NP_006040.1:n.*196A>G | |
| NR_138061.2:n.662A>G (SNAPC5) |