Linked Data
ClinVar Variation Id:
939267
ClinVar RCV Id:
RCV001208641
dbSNP Id:
rs374823017
ExAC:
5:86629109 G / A
gnomAD v2:
5-86629109-G-A
gnomAD v3:
5-87333292-G-A
gnomAD v4:
5-87333292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87333292G>A , CM000667.2:g.87333292G>A | GRCh38 |
| NC_000005.9:g.86629109G>A , CM000667.1:g.86629109G>A | GRCh37 |
| NC_000005.8:g.86664865G>A | NCBI36 |
| NG_011650.1:g.69959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.854G>A (RASA1) MANE Select | ENSP00000274376.6:p.Arg285Gln | |
| ENST00000645953.1:c.*91-14395C>T (CCNH) | ENSP00000494460.1:n.*91-14395C>T | |
| ENST00000274376.10:c.854G>A (RASA1) | ENSP00000274376.6:p.Arg285Gln | |
| ENST00000456692.6:c.323G>A (RASA1) | ENSP00000411221.2:p.Arg108Gln | |
| ENST00000506290.1:c.356G>A (RASA1) | ENSP00000420905.1:p.Arg119Gln | |
| ENST00000512763.5:c.353G>A (RASA1) | ENSP00000422008.1:p.Arg118Gln | |
| ENST00000515800.6:c.854G>A (RASA1) | ENSP00000423395.2:p.Arg285Gln | |
| NM_002890.2:c.854G>A (RASA1) | NP_002881.1:p.Arg285Gln | |
| NM_022650.2:c.323G>A (RASA1) | NP_072179.1:p.Arg108Gln | |
| XM_011543525.1:c.854G>A (RASA1) | XP_011541827.1:p.Arg285Gln | |
| XM_011543526.1:c.854G>A (RASA1) | XP_011541828.1:p.Arg285Gln | |
| XM_011543527.1:c.854G>A (RASA1) | XP_011541829.1:p.Arg285Gln | |
| NM_001364075.1:c.934-20497C>T (CCNH) | NP_001351004.1:n.934-20497C>T | |
| NR_157068.1:n.1448-20497C>T (CCNH) | ||
| NR_157069.1:n.1041-20497C>T (CCNH) | ||
| NR_157070.1:n.1205-20497C>T (CCNH) | ||
| XM_011543525.2:c.854G>A (RASA1) | XP_011541827.1:p.Arg285Gln | |
| XM_011543527.3:c.854G>A (RASA1) | XP_011541829.1:p.Arg285Gln | |
| NM_001364075.2:c.934-20497C>T (CCNH) | NP_001351004.1:n.934-20497C>T | |
| NM_002890.3:c.854G>A (RASA1) MANE Select | NP_002881.1:p.Arg285Gln | |
| NR_157068.2:n.1448-20497C>T (CCNH) | ||
| NR_157069.2:n.1041-20497C>T (CCNH) | ||
| NR_157070.2:n.1205-20497C>T (CCNH) | ||
| NM_022650.3:c.323G>A (RASA1) | NP_072179.1:p.Arg108Gln |