Linked Data
dbSNP Id:
rs768015709
ExAC:
10:101611303 C / G
gnomAD v2:
10-101611303-C-G
gnomAD v4:
10-99851546-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851546C>G , CM000672.2:g.99851546C>G | GRCh38 |
| NC_000010.10:g.101611303C>G , CM000672.1:g.101611303C>G | GRCh37 |
| NC_000010.9:g.101601293C>G | NCBI36 |
| NG_011798.1:g.73841C>G | |
| NG_011798.2:g.73949C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4553C>G MANE Select | ENSP00000497274.1:p.Pro1518Arg | |
| ENST00000648523.1:c.623C>G | ||
| ENST00000370449.8:c.4553C>G | ENSP00000359478.4:p.Pro1518Arg | |
| NM_000392.4:c.4553C>G | NP_000383.1:p.Pro1518Arg | |
| XM_006717630.2:c.3857C>G | XP_006717693.1:p.Pro1286Arg | |
| NM_000392.5:c.4553C>G MANE Select | NP_000383.2:p.Pro1518Arg | |
| XM_006717630.3:c.3857C>G | XP_006717693.1:p.Pro1286Arg |