Linked Data
ClinVar Variation Id:
2151144
ClinVar RCV Id:
RCV003067924
dbSNP Id:
rs745790570
ExAC:
5:86627305 T / C
gnomAD v2:
5-86627305-T-C
gnomAD v4:
5-87331488-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87331488T>C , CM000667.2:g.87331488T>C | GRCh38 |
| NC_000005.9:g.86627305T>C , CM000667.1:g.86627305T>C | GRCh37 |
| NC_000005.8:g.86663061T>C | NCBI36 |
| NG_011650.1:g.68155T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.680T>C (RASA1) MANE Select | ENSP00000274376.6:p.Val227Ala | |
| ENST00000645953.1:c.*91-12591A>G (CCNH) | ENSP00000494460.1:n.*91-12591A>G | |
| ENST00000274376.10:c.680T>C (RASA1) | ENSP00000274376.6:p.Val227Ala | |
| ENST00000456692.6:c.149T>C (RASA1) | ENSP00000411221.2:p.Val50Ala | |
| ENST00000506290.1:c.182T>C (RASA1) | ENSP00000420905.1:p.Val61Ala | |
| ENST00000512763.5:c.179T>C (RASA1) | ENSP00000422008.1:p.Val60Ala | |
| ENST00000515800.6:c.680T>C (RASA1) | ENSP00000423395.2:p.Val227Ala | |
| NM_002890.2:c.680T>C (RASA1) | NP_002881.1:p.Val227Ala | |
| NM_022650.2:c.149T>C (RASA1) | NP_072179.1:p.Val50Ala | |
| XM_011543525.1:c.680T>C (RASA1) | XP_011541827.1:p.Val227Ala | |
| XM_011543526.1:c.680T>C (RASA1) | XP_011541828.1:p.Val227Ala | |
| XM_011543527.1:c.680T>C (RASA1) | XP_011541829.1:p.Val227Ala | |
| NM_001364075.1:c.934-18693A>G (CCNH) | NP_001351004.1:n.934-18693A>G | |
| NR_157068.1:n.1448-18693A>G (CCNH) | ||
| NR_157069.1:n.1041-18693A>G (CCNH) | ||
| NR_157070.1:n.1205-18693A>G (CCNH) | ||
| XM_011543525.2:c.680T>C (RASA1) | XP_011541827.1:p.Val227Ala | |
| XM_011543527.3:c.680T>C (RASA1) | XP_011541829.1:p.Val227Ala | |
| NM_001364075.2:c.934-18693A>G (CCNH) | NP_001351004.1:n.934-18693A>G | |
| NM_002890.3:c.680T>C (RASA1) MANE Select | NP_002881.1:p.Val227Ala | |
| NR_157068.2:n.1448-18693A>G (CCNH) | ||
| NR_157069.2:n.1041-18693A>G (CCNH) | ||
| NR_157070.2:n.1205-18693A>G (CCNH) | ||
| NM_022650.3:c.149T>C (RASA1) | NP_072179.1:p.Val50Ala |