Linked Data
ClinVar Variation Id:
1626889
ClinVar RCV Id:
RCV002132781
dbSNP Id:
rs750513068
ExAC:
5:86685194 T / A
gnomAD v2:
5-86685194-T-A
gnomAD v3:
5-87389377-T-A
gnomAD v4:
5-87389377-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87389377T>A , CM000667.2:g.87389377T>A | GRCh38 |
| NC_000005.9:g.86685194T>A , CM000667.1:g.86685194T>A | GRCh37 |
| NC_000005.8:g.86720950T>A | NCBI36 |
| NG_011650.1:g.126044T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274376.11:c.2926-16T>A (RASA1) MANE Select | ENSP00000274376.6:n.2926-16T>A | |
| ENST00000645953.1:c.*90+3393A>T (CCNH) | ENSP00000494460.1:n.*90+3393A>T | |
| ENST00000646883.1:c.254+3393A>T (CCNH) | ||
| ENST00000274376.10:c.2926-16T>A (RASA1) | ENSP00000274376.6:n.2926-16T>A | |
| ENST00000456692.6:c.2395-16T>A (RASA1) | ENSP00000411221.2:n.2395-16T>A | |
| ENST00000506290.1:c.2428-16T>A (RASA1) | ENSP00000420905.1:n.2428-16T>A | |
| ENST00000512763.5:c.2425-16T>A (RASA1) | ENSP00000422008.1:n.2425-16T>A | |
| ENST00000515800.6:c.*1525T>A (RASA1) | ENSP00000423395.2:n.*1525T>A | |
| NM_002890.2:c.2926-16T>A (RASA1) | NP_002881.1:n.2926-16T>A | |
| NM_022650.2:c.2395-16T>A (RASA1) | NP_072179.1:n.2395-16T>A | |
| XM_011543525.1:c.2839-16T>A (RASA1) | XP_011541827.1:n.2839-16T>A | |
| NM_001364075.1:c.933+5667A>T (CCNH) | NP_001351004.1:n.933+5667A>T | |
| NR_157068.1:n.1447+3393A>T (CCNH) | ||
| NR_157069.1:n.1040+3393A>T (CCNH) | ||
| NR_157070.1:n.1204+3393A>T (CCNH) | ||
| XM_011543525.2:c.2839-16T>A (RASA1) | XP_011541827.1:n.2839-16T>A | |
| NM_001364075.2:c.933+5667A>T (CCNH) | NP_001351004.1:n.933+5667A>T | |
| NM_002890.3:c.2926-16T>A (RASA1) MANE Select | NP_002881.1:n.2926-16T>A | |
| NR_157068.2:n.1447+3393A>T (CCNH) | ||
| NR_157069.2:n.1040+3393A>T (CCNH) | ||
| NR_157070.2:n.1204+3393A>T (CCNH) | ||
| NM_022650.3:c.2395-16T>A (RASA1) | NP_072179.1:n.2395-16T>A |