Linked Data
ClinVar Variation Id:
354512
dbSNP Id:
rs187379673
ExAC:
5:86629072 T / A
gnomAD v2:
5-86629072-T-A
gnomAD v3:
5-87333255-T-A
gnomAD v4:
5-87333255-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87333255T>A , CM000667.2:g.87333255T>A | GRCh38 |
| NC_000005.9:g.86629072T>A , CM000667.1:g.86629072T>A | GRCh37 |
| NC_000005.8:g.86664828T>A | NCBI36 |
| NG_011650.1:g.69922T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.829-12T>A (RASA1) MANE Select | ENSP00000274376.6:n.829-12T>A | |
| ENST00000645953.1:c.*91-14358A>T (CCNH) | ENSP00000494460.1:n.*91-14358A>T | |
| ENST00000274376.10:c.829-12T>A (RASA1) | ENSP00000274376.6:n.829-12T>A | |
| ENST00000456692.6:c.298-12T>A (RASA1) | ENSP00000411221.2:n.298-12T>A | |
| ENST00000506290.1:c.331-12T>A (RASA1) | ENSP00000420905.1:n.331-12T>A | |
| ENST00000512763.5:c.328-12T>A (RASA1) | ENSP00000422008.1:n.328-12T>A | |
| ENST00000515800.6:c.829-12T>A (RASA1) | ENSP00000423395.2:n.829-12T>A | |
| NM_002890.2:c.829-12T>A (RASA1) | NP_002881.1:n.829-12T>A | |
| NM_022650.2:c.298-12T>A (RASA1) | NP_072179.1:n.298-12T>A | |
| XM_011543525.1:c.829-12T>A (RASA1) | XP_011541827.1:n.829-12T>A | |
| XM_011543526.1:c.829-12T>A (RASA1) | XP_011541828.1:n.829-12T>A | |
| XM_011543527.1:c.829-12T>A (RASA1) | XP_011541829.1:n.829-12T>A | |
| NM_001364075.1:c.934-20460A>T (CCNH) | NP_001351004.1:n.934-20460A>T | |
| NR_157068.1:n.1448-20460A>T (CCNH) | ||
| NR_157069.1:n.1041-20460A>T (CCNH) | ||
| NR_157070.1:n.1205-20460A>T (CCNH) | ||
| XM_011543525.2:c.829-12T>A (RASA1) | XP_011541827.1:n.829-12T>A | |
| XM_011543527.3:c.829-12T>A (RASA1) | XP_011541829.1:n.829-12T>A | |
| NM_001364075.2:c.934-20460A>T (CCNH) | NP_001351004.1:n.934-20460A>T | |
| NM_002890.3:c.829-12T>A (RASA1) MANE Select | NP_002881.1:n.829-12T>A | |
| NR_157068.2:n.1448-20460A>T (CCNH) | ||
| NR_157069.2:n.1041-20460A>T (CCNH) | ||
| NR_157070.2:n.1205-20460A>T (CCNH) | ||
| NM_022650.3:c.298-12T>A (RASA1) | NP_072179.1:n.298-12T>A |