Linked Data
dbSNP Id:
rs752593184
ExAC:
11:5246801 T / C
gnomAD v2:
11-5246801-T-C
gnomAD v4:
11-5225571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225571T>C , CM000673.2:g.5225571T>C | GRCh38 |
| NC_000011.9:g.5246801T>C , CM000673.1:g.5246801T>C | GRCh37 |
| NC_000011.8:g.5203377T>C | NCBI36 |
| NG_000007.3:g.72045A>G | |
| NG_059281.1:g.6501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*27A>G | ENSP00000494175.1:n.*27A>G | |
| ENST00000335295.4:c.*27A>G MANE Select | ENSP00000333994.3:n.*27A>G | |
| ENST00000633227.1:c.*287A>G | ENSP00000488004.1:n.*287A>G | |
| NM_000518.4:c.*27A>G | NP_000509.1:n.*27A>G | |
| NM_000518.5:c.*27A>G MANE Select | NP_000509.1:n.*27A>G |