Linked Data
ClinVar Variation Id:
16001
dbSNP Id:
rs137853218
gnomAD v4:
5-87333291-C-T
PubMed:
PMID:18363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87333291C>T , CM000667.2:g.87333291C>T | GRCh38 |
| NC_000005.9:g.86629108C>T , CM000667.1:g.86629108C>T | GRCh37 |
| NC_000005.8:g.86664864C>T | NCBI36 |
| NG_011650.1:g.69958C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.853C>T (RASA1) MANE Select | ENSP00000274376.6:p.Arg285Ter | |
| ENST00000645953.1:c.*91-14394G>A (CCNH) | ENSP00000494460.1:n.*91-14394G>A | |
| ENST00000274376.10:c.853C>T (RASA1) | ENSP00000274376.6:p.Arg285Ter | |
| ENST00000456692.6:c.322C>T (RASA1) | ENSP00000411221.2:p.Arg108Ter | |
| ENST00000506290.1:c.355C>T (RASA1) | ENSP00000420905.1:p.Arg119Ter | |
| ENST00000512763.5:c.352C>T (RASA1) | ENSP00000422008.1:p.Arg118Ter | |
| ENST00000515800.6:c.853C>T (RASA1) | ENSP00000423395.2:p.Arg285Ter | |
| NM_002890.2:c.853C>T (RASA1) | NP_002881.1:p.Arg285Ter | |
| NM_022650.2:c.322C>T (RASA1) | NP_072179.1:p.Arg108Ter | |
| XM_011543525.1:c.853C>T (RASA1) | XP_011541827.1:p.Arg285Ter | |
| XM_011543526.1:c.853C>T (RASA1) | XP_011541828.1:p.Arg285Ter | |
| XM_011543527.1:c.853C>T (RASA1) | XP_011541829.1:p.Arg285Ter | |
| NM_001364075.1:c.934-20496G>A (CCNH) | NP_001351004.1:n.934-20496G>A | |
| NR_157068.1:n.1448-20496G>A (CCNH) | ||
| NR_157069.1:n.1041-20496G>A (CCNH) | ||
| NR_157070.1:n.1205-20496G>A (CCNH) | ||
| XM_011543525.2:c.853C>T (RASA1) | XP_011541827.1:p.Arg285Ter | |
| XM_011543527.3:c.853C>T (RASA1) | XP_011541829.1:p.Arg285Ter | |
| NM_001364075.2:c.934-20496G>A (CCNH) | NP_001351004.1:n.934-20496G>A | |
| NM_002890.3:c.853C>T (RASA1) MANE Select | NP_002881.1:p.Arg285Ter | |
| NR_157068.2:n.1448-20496G>A (CCNH) | ||
| NR_157069.2:n.1041-20496G>A (CCNH) | ||
| NR_157070.2:n.1205-20496G>A (CCNH) | ||
| NM_022650.3:c.322C>T (RASA1) | NP_072179.1:p.Arg108Ter |