Linked Data
ClinVar Variation Id:
311782
ClinVar RCV Id:
RCV000393909
dbSNP Id:
rs772887500
ExAC:
13:37393509 T / C
gnomAD v2:
13-37393509-T-C
gnomAD v3:
13-36819372-T-C
gnomAD v4:
13-36819372-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36819372T>C , CM000675.2:g.36819372T>C | GRCh38 |
| NC_000013.10:g.37393509T>C , CM000675.1:g.37393509T>C | GRCh37 |
| NC_000013.9:g.36291509T>C | NCBI36 |
| NG_007876.1:g.5171T>C , LRG_103:g.5171T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255476.3:c.15T>C (RFXAP) MANE Select | ENSP00000255476.3:p.Gly5= | |
| ENST00000255476.2:c.15T>C (RFXAP) | ENSP00000255476.2:p.Gly5= | |
| NM_000538.3:c.15T>C , LRG_103t1:c.15T>C (RFXAP) | NP_000529.1:p.Gly5= | |
| XM_011535096.1:c.1261-3231A>G (SMAD9) | XP_011533398.1:n.1261-3231A>G | |
| NM_000538.4:c.15T>C (RFXAP) MANE Select | NP_000529.1:p.Gly5= |