Linked Data
ClinVar Variation Id:
2100898
ClinVar RCV Id:
RCV003025997
dbSNP Id:
rs1580325656
gnomAD v4:
5-87349224-C-G
MyVariant Identifiers:
chr5:g.86645041C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87349224C>G , CM000667.2:g.87349224C>G | GRCh38 |
| NC_000005.9:g.86645041C>G , CM000667.1:g.86645041C>G | GRCh37 |
| NC_000005.8:g.86680797C>G | NCBI36 |
| NG_011650.1:g.85891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.1113C>G (RASA1) MANE Select | ENSP00000274376.6:p.Val371= | |
| ENST00000645953.1:c.*91-30327G>C (CCNH) | ENSP00000494460.1:n.*91-30327G>C | |
| ENST00000274376.10:c.1113C>G (RASA1) | ENSP00000274376.6:p.Val371= | |
| ENST00000456692.6:c.582C>G (RASA1) | ENSP00000411221.2:p.Val194= | |
| ENST00000506290.1:c.615C>G (RASA1) | ENSP00000420905.1:p.Val205= | |
| ENST00000509953.1:n.216C>G (RASA1) | ||
| ENST00000512763.5:c.612C>G (RASA1) | ENSP00000422008.1:p.Val204= | |
| ENST00000515800.6:c.1113C>G (RASA1) | ENSP00000423395.2:p.Val371= | |
| NM_002890.2:c.1113C>G (RASA1) | NP_002881.1:p.Val371= | |
| NM_022650.2:c.582C>G (RASA1) | NP_072179.1:p.Val194= | |
| XM_011543525.1:c.1113C>G (RASA1) | XP_011541827.1:p.Val371= | |
| XM_011543526.1:c.1113C>G (RASA1) | XP_011541828.1:p.Val371= | |
| XM_011543527.1:c.1113C>G (RASA1) | XP_011541829.1:p.Val371= | |
| NM_001364075.1:c.934-36429G>C (CCNH) | NP_001351004.1:n.934-36429G>C | |
| NR_157068.1:n.1448-36429G>C (CCNH) | ||
| NR_157069.1:n.1041-36429G>C (CCNH) | ||
| NR_157070.1:n.1205-36429G>C (CCNH) | ||
| XM_011543525.2:c.1113C>G (RASA1) | XP_011541827.1:p.Val371= | |
| XM_011543527.3:c.1113C>G (RASA1) | XP_011541829.1:p.Val371= | |
| NM_001364075.2:c.934-36429G>C (CCNH) | NP_001351004.1:n.934-36429G>C | |
| NM_002890.3:c.1113C>G (RASA1) MANE Select | NP_002881.1:p.Val371= | |
| NR_157068.2:n.1448-36429G>C (CCNH) | ||
| NR_157069.2:n.1041-36429G>C (CCNH) | ||
| NR_157070.2:n.1205-36429G>C (CCNH) | ||
| NM_022650.3:c.582C>G (RASA1) | NP_072179.1:p.Val194= |