Linked Data
ClinVar Variation Id:
354538
dbSNP Id:
rs543819845
gnomAD v2:
5-86687176-T-G
gnomAD v3:
5-87391359-T-G
gnomAD v4:
5-87391359-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87391359T>G , CM000667.2:g.87391359T>G | GRCh38 |
| NC_000005.9:g.86687176T>G , CM000667.1:g.86687176T>G | GRCh37 |
| NC_000005.8:g.86722932T>G | NCBI36 |
| NG_011650.1:g.128026T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274376.11:c.*476T>G (RASA1) MANE Select | ENSP00000274376.6:n.*476T>G | |
| ENST00000645953.1:c.*90+1411A>C (CCNH) | ENSP00000494460.1:n.*90+1411A>C | |
| ENST00000646883.1:c.254+1411A>C (CCNH) | ||
| ENST00000456692.6:c.*476T>G (RASA1) | ENSP00000411221.2:n.*476T>G | |
| ENST00000515800.6:c.*2235T>G (RASA1) | ENSP00000423395.2:n.*2235T>G | |
| NM_002890.2:c.*476T>G (RASA1) | NP_002881.1:n.*476T>G | |
| NM_022650.2:c.*476T>G (RASA1) | NP_072179.1:n.*476T>G | |
| XM_011543525.1:c.*476T>G (RASA1) | XP_011541827.1:n.*476T>G | |
| NM_001363539.1:c.*1501A>C (CCNH) | NP_001350468.1:n.*1501A>C | |
| NM_001364075.1:c.933+3685A>C (CCNH) | NP_001351004.1:n.933+3685A>C | |
| NM_001364076.1:c.*1501A>C (CCNH) | NP_001351005.1:n.*1501A>C | |
| NR_157068.1:n.1447+1411A>C (CCNH) | ||
| NR_157069.1:n.1040+1411A>C (CCNH) | ||
| NR_157070.1:n.1204+1411A>C (CCNH) | ||
| NR_157071.1:n.2451A>C (CCNH) | ||
| XM_011543525.2:c.*476T>G (RASA1) | XP_011541827.1:n.*476T>G | |
| NM_001364075.2:c.933+3685A>C (CCNH) | NP_001351004.1:n.933+3685A>C | |
| NM_001364076.2:c.*1501A>C (CCNH) | NP_001351005.1:n.*1501A>C | |
| NM_002890.3:c.*476T>G (RASA1) MANE Select | NP_002881.1:n.*476T>G | |
| NR_157068.2:n.1447+1411A>C (CCNH) | ||
| NR_157069.2:n.1040+1411A>C (CCNH) | ||
| NR_157070.2:n.1204+1411A>C (CCNH) | ||
| NR_157071.2:n.2451A>C (CCNH) | ||
| NM_001363539.2:c.*1501A>C (CCNH) | NP_001350468.1:n.*1501A>C | |
| NM_022650.3:c.*476T>G (RASA1) | NP_072179.1:n.*476T>G |