Linked Data
ClinVar Variation Id:
384543
ClinVar RCV Id:
RCV000441338
dbSNP Id:
rs779960116
ExAC:
4:86921853 G / A
gnomAD v2:
4-86921853-G-A
gnomAD v3:
4-86000700-G-A
gnomAD v4:
4-86000700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86000700G>A , CM000666.2:g.86000700G>A | GRCh38 |
| NC_000004.11:g.86921853G>A , CM000666.1:g.86921853G>A | GRCh37 |
| NC_000004.10:g.87140877G>A | NCBI36 |
| NG_051627.1:g.530570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395184.6:c.2225G>A (ARHGAP24) MANE Select | ENSP00000378611.1:p.Gly742Glu | |
| ENST00000641010.1:c.1392-8537C>T (MAPK10) | ENSP00000493178.1:n.1392-8537C>T | |
| ENST00000641102.1:c.*513C>T (MAPK10) | ENSP00000493048.1:n.*513C>T | |
| ENST00000641324.1:c.1278-8537C>T (MAPK10) | ENSP00000492888.1:n.1278-8537C>T | |
| ENST00000641372.1:n.175+737C>T (MAPK10) | ||
| ENST00000264343.4:c.1946G>A (ARHGAP24) | ENSP00000264343.4:p.Gly649Glu | |
| ENST00000395183.6:c.1940G>A (ARHGAP24) | ENSP00000378610.2:p.Gly647Glu | |
| ENST00000395184.5:c.2225G>A (ARHGAP24) | ENSP00000378611.1:p.Gly742Glu | |
| NM_001025616.2:c.2225G>A (ARHGAP24) | NP_001020787.2:p.Gly742Glu | |
| NM_001042669.1:c.1940G>A (ARHGAP24) | NP_001036134.1:p.Gly647Glu | |
| NM_001287805.1:c.1970G>A (ARHGAP24) | NP_001274734.1:p.Gly657Glu | |
| NM_031305.2:c.1946G>A (ARHGAP24) | NP_112595.2:p.Gly649Glu | |
| XM_005263263.3:c.2225G>A (ARHGAP24) | XP_005263320.1:p.Gly742Glu | |
| XM_011532300.1:c.1940G>A (ARHGAP24) | XP_011530602.1:p.Gly647Glu | |
| NM_001346093.1:c.1646G>A (ARHGAP24) | NP_001333022.1:p.Gly549Glu | |
| XM_011532300.2:c.1940G>A (ARHGAP24) | XP_011530602.1:p.Gly647Glu | |
| XM_024454238.1:c.1940G>A (ARHGAP24) | XP_024310006.1:p.Gly647Glu | |
| XM_024454239.1:c.1940G>A (ARHGAP24) | XP_024310007.1:p.Gly647Glu | |
| NM_001025616.3:c.2225G>A (ARHGAP24) MANE Select | NP_001020787.2:p.Gly742Glu | |
| NM_001042669.2:c.1940G>A (ARHGAP24) | NP_001036134.1:p.Gly647Glu | |
| NM_001287805.2:c.1970G>A (ARHGAP24) | NP_001274734.1:p.Gly657Glu | |
| NM_001346093.2:c.1646G>A (ARHGAP24) | NP_001333022.1:p.Gly549Glu | |
| NM_031305.3:c.1946G>A (ARHGAP24) | NP_112595.2:p.Gly649Glu |