Linked Data
ClinVar Variation Id:
15484
ClinVar RCV Id:
RCV000016743
dbSNP Id:
rs33947020
gnomAD v4:
11-5225683-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225683C>G , CM000673.2:g.5225683C>G | GRCh38 |
| NC_000011.9:g.5246913C>G , CM000673.1:g.5246913C>G | GRCh37 |
| NC_000011.8:g.5203489C>G | NCBI36 |
| NG_000007.3:g.71933G>C | |
| NG_059281.1:g.6389G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.359G>C | ENSP00000494175.1:p.Gly120Ala | |
| ENST00000335295.4:c.359G>C MANE Select | ENSP00000333994.3:p.Gly120Ala | |
| ENST00000475226.1:n.291G>C | ||
| ENST00000633227.1:c.*175G>C | ENSP00000488004.1:n.*175G>C | |
| NM_000518.4:c.359G>C | NP_000509.1:p.Gly120Ala | |
| NM_000518.5:c.359G>C MANE Select | NP_000509.1:p.Gly120Ala |