Linked Data
dbSNP Id:
rs11538960
ExAC:
1:113244187 C / T
gnomAD v2:
1-113244187-C-T
gnomAD v3:
1-112701565-C-T
gnomAD v4:
1-112701565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112701565C>T , CM000663.2:g.112701565C>T | GRCh38 |
| NC_000001.10:g.113244187C>T , CM000663.1:g.113244187C>T | GRCh37 |
| NC_000001.9:g.113045710C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339083.12:c.557G>A (RHOC) MANE Select | ENSP00000345236.8:p.Arg186His | |
| ENST00000285735.6:c.557G>A (RHOC) | ENSP00000285735.2:p.Arg186His | |
| ENST00000339083.11:c.557G>A (RHOC) | ENSP00000345236.7:p.Arg186His | |
| ENST00000369632.6:c.557G>A (RHOC) | ENSP00000358646.2:p.Arg186His | |
| ENST00000369633.6:c.557G>A (RHOC) | ENSP00000358647.2:p.Arg186His | |
| ENST00000369636.6:c.496G>A (RHOC) | ENSP00000358650.2:p.Val166Ile | |
| ENST00000369637.5:c.557G>A (RHOC) | ENSP00000358651.1:p.Arg186His | |
| ENST00000369638.6:c.557G>A (RHOC) | ENSP00000358652.2:p.Arg186His | |
| ENST00000369642.7:c.557G>A (RHOC) | ENSP00000358656.3:p.Arg186His | |
| ENST00000425265.6:c.557G>A (RHOC) | ENSP00000390823.2:p.Arg186His | |
| ENST00000468093.5:c.*430G>A (RHOC) | ENSP00000431392.1:n.*430G>A | |
| ENST00000473074.1:n.716G>A (RHOC) | ||
| ENST00000484280.6:c.*430G>A (RHOC) | ENSP00000434310.1:n.*430G>A | |
| NM_001042678.1:c.557G>A (RHOC) | NP_001036143.1:p.Arg186His | |
| NM_001042679.1:c.557G>A (RHOC) | NP_001036144.1:p.Arg186His | |
| NM_175744.4:c.557G>A (RHOC) | NP_786886.1:p.Arg186His | |
| XM_005270869.4:c.*1058C>T (MOV10) | XP_005270926.1:n.*1058C>T | |
| XM_005270870.5:c.*1058C>T (MOV10) | XP_005270927.1:n.*1058C>T | |
| XM_017001318.2:c.*1058C>T (MOV10) | XP_016856807.1:n.*1058C>T | |
| XM_024447132.1:c.*1058C>T (MOV10) | XP_024302900.1:n.*1058C>T | |
| NM_175744.5:c.557G>A (RHOC) MANE Select | NP_786886.1:p.Arg186His | |
| NM_001042678.2:c.557G>A (RHOC) | NP_001036143.1:p.Arg186His | |
| NM_001042679.2:c.557G>A (RHOC) | NP_001036144.1:p.Arg186His |