Linked Data
ClinVar Variation Id:
354525
dbSNP Id:
rs138785106
ExAC:
5:86675667 C / T
gnomAD v2:
5-86675667-C-T
gnomAD v3:
5-87379850-C-T
gnomAD v4:
5-87379850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87379850C>T , CM000667.2:g.87379850C>T | GRCh38 |
| NC_000005.9:g.86675667C>T , CM000667.1:g.86675667C>T | GRCh37 |
| NC_000005.8:g.86711423C>T | NCBI36 |
| NG_011650.1:g.116517C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.2603C>T (RASA1) MANE Select | ENSP00000274376.6:p.Pro868Leu | |
| ENST00000645953.1:c.*90+12920G>A (CCNH) | ENSP00000494460.1:n.*90+12920G>A | |
| ENST00000646883.1:c.255-3332G>A (CCNH) | ||
| ENST00000274376.10:c.2603C>T (RASA1) | ENSP00000274376.6:p.Pro868Leu | |
| ENST00000456692.6:c.2072C>T (RASA1) | ENSP00000411221.2:p.Pro691Leu | |
| ENST00000506290.1:c.2105C>T (RASA1) | ENSP00000420905.1:p.Pro702Leu | |
| ENST00000512763.5:c.2102C>T (RASA1) | ENSP00000422008.1:p.Pro701Leu | |
| ENST00000515800.6:c.*1128C>T (RASA1) | ENSP00000423395.2:n.*1128C>T | |
| NM_002890.2:c.2603C>T (RASA1) | NP_002881.1:p.Pro868Leu | |
| NM_022650.2:c.2072C>T (RASA1) | NP_072179.1:p.Pro691Leu | |
| XM_011543525.1:c.2603C>T (RASA1) | XP_011541827.1:p.Pro868Leu | |
| XM_011543526.1:c.2603C>T (RASA1) | XP_011541828.1:p.Pro868Leu | |
| NM_001364075.1:c.933+15194G>A (CCNH) | NP_001351004.1:n.933+15194G>A | |
| NR_157068.1:n.1447+12920G>A (CCNH) | ||
| NR_157069.1:n.1040+12920G>A (CCNH) | ||
| NR_157070.1:n.1204+12920G>A (CCNH) | ||
| XM_011543525.2:c.2603C>T (RASA1) | XP_011541827.1:p.Pro868Leu | |
| NM_001364075.2:c.933+15194G>A (CCNH) | NP_001351004.1:n.933+15194G>A | |
| NM_002890.3:c.2603C>T (RASA1) MANE Select | NP_002881.1:p.Pro868Leu | |
| NR_157068.2:n.1447+12920G>A (CCNH) | ||
| NR_157069.2:n.1040+12920G>A (CCNH) | ||
| NR_157070.2:n.1204+12920G>A (CCNH) | ||
| NM_022650.3:c.2072C>T (RASA1) | NP_072179.1:p.Pro691Leu |