Linked Data
ClinVar Variation Id:
464865
ClinVar RCV Id:
RCV002231773
dbSNP Id:
rs1554050607
gnomAD v4:
5-87386912-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87386912A>T , CM000667.2:g.87386912A>T | GRCh38 |
| NC_000005.9:g.86682729A>T , CM000667.1:g.86682729A>T | GRCh37 |
| NC_000005.8:g.86718485A>T | NCBI36 |
| NG_011650.1:g.123579A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.2925+9A>T (RASA1) MANE Select | ENSP00000274376.6:n.2925+9A>T | |
| ENST00000645953.1:c.*90+5858T>A (CCNH) | ENSP00000494460.1:n.*90+5858T>A | |
| ENST00000646883.1:c.254+5858T>A (CCNH) | ||
| ENST00000274376.10:c.2925+9A>T (RASA1) | ENSP00000274376.6:n.2925+9A>T | |
| ENST00000456692.6:c.2394+9A>T (RASA1) | ENSP00000411221.2:n.2394+9A>T | |
| ENST00000506290.1:c.2427+9A>T (RASA1) | ENSP00000420905.1:n.2427+9A>T | |
| ENST00000512763.5:c.2424+9A>T (RASA1) | ENSP00000422008.1:n.2424+9A>T | |
| ENST00000515800.6:c.*1450+9A>T (RASA1) | ENSP00000423395.2:n.*1450+9A>T | |
| NM_002890.2:c.2925+9A>T (RASA1) | NP_002881.1:n.2925+9A>T | |
| NM_022650.2:c.2394+9A>T (RASA1) | NP_072179.1:n.2394+9A>T | |
| XM_011543525.1:c.2838+9A>T (RASA1) | XP_011541827.1:n.2838+9A>T | |
| XM_011543526.1:c.2925+9A>T (RASA1) | XP_011541828.1:n.2925+9A>T | |
| NM_001364075.1:c.933+8132T>A (CCNH) | NP_001351004.1:n.933+8132T>A | |
| NR_157068.1:n.1447+5858T>A (CCNH) | ||
| NR_157069.1:n.1040+5858T>A (CCNH) | ||
| NR_157070.1:n.1204+5858T>A (CCNH) | ||
| XM_011543525.2:c.2838+9A>T (RASA1) | XP_011541827.1:n.2838+9A>T | |
| NM_001364075.2:c.933+8132T>A (CCNH) | NP_001351004.1:n.933+8132T>A | |
| NM_002890.3:c.2925+9A>T (RASA1) MANE Select | NP_002881.1:n.2925+9A>T | |
| NR_157068.2:n.1447+5858T>A (CCNH) | ||
| NR_157069.2:n.1040+5858T>A (CCNH) | ||
| NR_157070.2:n.1204+5858T>A (CCNH) | ||
| NM_022650.3:c.2394+9A>T (RASA1) | NP_072179.1:n.2394+9A>T |