Linked Data
ClinVar Variation Id:
935237
ClinVar RCV Id:
RCV001203785
dbSNP Id:
rs1179465272
gnomAD v2:
5-86645043-G-C
gnomAD v4:
5-87349226-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87349226G>C , CM000667.2:g.87349226G>C | GRCh38 |
| NC_000005.9:g.86645043G>C , CM000667.1:g.86645043G>C | GRCh37 |
| NC_000005.8:g.86680799G>C | NCBI36 |
| NG_011650.1:g.85893G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.1115G>C (RASA1) MANE Select | ENSP00000274376.6:p.Cys372Ser | |
| ENST00000645953.1:c.*91-30329C>G (CCNH) | ENSP00000494460.1:n.*91-30329C>G | |
| ENST00000274376.10:c.1115G>C (RASA1) | ENSP00000274376.6:p.Cys372Ser | |
| ENST00000456692.6:c.584G>C (RASA1) | ENSP00000411221.2:p.Cys195Ser | |
| ENST00000506290.1:c.617G>C (RASA1) | ENSP00000420905.1:p.Cys206Ser | |
| ENST00000509953.1:n.218G>C (RASA1) | ||
| ENST00000512763.5:c.614G>C (RASA1) | ENSP00000422008.1:p.Cys205Ser | |
| ENST00000515800.6:c.1115G>C (RASA1) | ENSP00000423395.2:p.Cys372Ser | |
| NM_002890.2:c.1115G>C (RASA1) | NP_002881.1:p.Cys372Ser | |
| NM_022650.2:c.584G>C (RASA1) | NP_072179.1:p.Cys195Ser | |
| XM_011543525.1:c.1115G>C (RASA1) | XP_011541827.1:p.Cys372Ser | |
| XM_011543526.1:c.1115G>C (RASA1) | XP_011541828.1:p.Cys372Ser | |
| XM_011543527.1:c.1115G>C (RASA1) | XP_011541829.1:p.Cys372Ser | |
| NM_001364075.1:c.934-36431C>G (CCNH) | NP_001351004.1:n.934-36431C>G | |
| NR_157068.1:n.1448-36431C>G (CCNH) | ||
| NR_157069.1:n.1041-36431C>G (CCNH) | ||
| NR_157070.1:n.1205-36431C>G (CCNH) | ||
| XM_011543525.2:c.1115G>C (RASA1) | XP_011541827.1:p.Cys372Ser | |
| XM_011543527.3:c.1115G>C (RASA1) | XP_011541829.1:p.Cys372Ser | |
| NM_001364075.2:c.934-36431C>G (CCNH) | NP_001351004.1:n.934-36431C>G | |
| NM_002890.3:c.1115G>C (RASA1) MANE Select | NP_002881.1:p.Cys372Ser | |
| NR_157068.2:n.1448-36431C>G (CCNH) | ||
| NR_157069.2:n.1041-36431C>G (CCNH) | ||
| NR_157070.2:n.1205-36431C>G (CCNH) | ||
| NM_022650.3:c.584G>C (RASA1) | NP_072179.1:p.Cys195Ser |