Linked Data
dbSNP Id:
rs370245521
ExAC:
13:48619941 C / G
gnomAD v2:
13-48619941-C-G
gnomAD v4:
13-48045805-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045805C>G , CM000675.2:g.48045805C>G | GRCh38 |
| NC_000013.10:g.48619941C>G , CM000675.1:g.48619941C>G | GRCh37 |
| NC_000013.9:g.47517942C>G | NCBI36 |
| NG_047021.1:g.13239C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*6C>G MANE Select | ENSP00000258662.1:n.*6C>G | |
| ENST00000258662.2:c.*6C>G | ENSP00000258662.1:n.*6C>G | |
| NM_018283.2:c.*6C>G | NP_060753.1:n.*6C>G | |
| NM_018283.3:c.*6C>G | NP_060753.1:n.*6C>G | |
| NR_136687.1:n.681C>G | ||
| NR_136688.1:n.675+6C>G | ||
| NM_018283.4:c.*6C>G MANE Select | NP_060753.1:n.*6C>G | |
| NR_136687.2:n.522C>G | ||
| NR_136688.2:n.516+6C>G |