Linked Data
dbSNP Id:
rs757983792
ExAC:
7:143039193 A / G
gnomAD v2:
7-143039193-A-G
gnomAD v4:
7-143342100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342100A>G , CM000669.2:g.143342100A>G | GRCh38 |
| NC_000007.13:g.143039193A>G , CM000669.1:g.143039193A>G | GRCh37 |
| NC_000007.12:g.142749315A>G | NCBI36 |
| NG_009815.1:g.30975A>G | |
| NG_009815.2:g.30975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1754A>G | ENSP00000498052.2:p.Lys585Arg | |
| ENST00000343257.7:c.1754A>G MANE Select | ENSP00000339867.2:p.Lys585Arg | |
| ENST00000432192.6:c.1578A>G | ||
| ENST00000343257.6:c.1754A>G | ENSP00000339867.2:p.Lys585Arg | |
| NM_000083.2:c.1754A>G | NP_000074.2:p.Lys585Arg | |
| NR_046453.1:n.1694A>G | ||
| XM_011515781.1:c.1778A>G | XP_011514083.1:p.Lys593Arg | |
| XM_011515782.1:c.500A>G | XP_011514084.1:p.Lys167Arg | |
| XM_011515782.2:c.500A>G | XP_011514084.1:p.Lys167Arg | |
| XM_017011739.1:c.1328A>G | XP_016867228.1:p.Lys443Arg | |
| XM_017011740.1:c.1304A>G | XP_016867229.1:p.Lys435Arg | |
| NM_000083.3:c.1754A>G MANE Select | NP_000074.3:p.Lys585Arg | |
| NR_046453.2:n.1709A>G |