Linked Data
ClinVar Variation Id:
2729582
ClinVar RCV Id:
RCV003595497
dbSNP Id:
rs530525048
gnomAD v2:
5-86681106-A-G
gnomAD v3:
5-87385289-A-G
gnomAD v4:
5-87385289-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87385289A>G , CM000667.2:g.87385289A>G | GRCh38 |
| NC_000005.9:g.86681106A>G , CM000667.1:g.86681106A>G | GRCh37 |
| NC_000005.8:g.86716862A>G | NCBI36 |
| NG_011650.1:g.121956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.2759-12A>G (RASA1) MANE Select | ENSP00000274376.6:n.2759-12A>G | |
| ENST00000645953.1:c.*90+7481T>C (CCNH) | ENSP00000494460.1:n.*90+7481T>C | |
| ENST00000646883.1:c.254+7481T>C (CCNH) | ||
| ENST00000274376.10:c.2759-12A>G (RASA1) | ENSP00000274376.6:n.2759-12A>G | |
| ENST00000456692.6:c.2228-12A>G (RASA1) | ENSP00000411221.2:n.2228-12A>G | |
| ENST00000506290.1:c.2261-12A>G (RASA1) | ENSP00000420905.1:n.2261-12A>G | |
| ENST00000512763.5:c.2258-12A>G (RASA1) | ENSP00000422008.1:n.2258-12A>G | |
| ENST00000515800.6:c.*1284-12A>G (RASA1) | ENSP00000423395.2:n.*1284-12A>G | |
| NM_002890.2:c.2759-12A>G (RASA1) | NP_002881.1:n.2759-12A>G | |
| NM_022650.2:c.2228-12A>G (RASA1) | NP_072179.1:n.2228-12A>G | |
| XM_011543525.1:c.2672-12A>G (RASA1) | XP_011541827.1:n.2672-12A>G | |
| XM_011543526.1:c.2759-12A>G (RASA1) | XP_011541828.1:n.2759-12A>G | |
| NM_001364075.1:c.933+9755T>C (CCNH) | NP_001351004.1:n.933+9755T>C | |
| NR_157068.1:n.1447+7481T>C (CCNH) | ||
| NR_157069.1:n.1040+7481T>C (CCNH) | ||
| NR_157070.1:n.1204+7481T>C (CCNH) | ||
| XM_011543525.2:c.2672-12A>G (RASA1) | XP_011541827.1:n.2672-12A>G | |
| NM_001364075.2:c.933+9755T>C (CCNH) | NP_001351004.1:n.933+9755T>C | |
| NM_002890.3:c.2759-12A>G (RASA1) MANE Select | NP_002881.1:n.2759-12A>G | |
| NR_157068.2:n.1447+7481T>C (CCNH) | ||
| NR_157069.2:n.1040+7481T>C (CCNH) | ||
| NR_157070.2:n.1204+7481T>C (CCNH) | ||
| NM_022650.3:c.2228-12A>G (RASA1) | NP_072179.1:n.2228-12A>G |