Linked Data
dbSNP Id:
rs770632948
ExAC:
7:143048702 G / A
gnomAD v2:
7-143048702-G-A
gnomAD v4:
7-143351609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351609G>A , CM000669.2:g.143351609G>A | GRCh38 |
| NC_000007.13:g.143048702G>A , CM000669.1:g.143048702G>A | GRCh37 |
| NC_000007.12:g.142758824G>A | NCBI36 |
| NG_009815.1:g.40484G>A | |
| NG_009815.2:g.40484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2611G>A | ENSP00000498052.2:p.Glu871Lys | |
| ENST00000343257.7:c.2611G>A MANE Select | ENSP00000339867.2:p.Glu871Lys | |
| ENST00000432192.6:c.2435G>A | ||
| ENST00000343257.6:c.2611G>A | ENSP00000339867.2:p.Glu871Lys | |
| NM_000083.2:c.2611G>A | NP_000074.2:p.Glu871Lys | |
| NR_046453.1:n.2551G>A | ||
| XM_011515781.1:c.2635G>A | XP_011514083.1:p.Glu879Lys | |
| XM_011515782.1:c.1357G>A | XP_011514084.1:p.Glu453Lys | |
| XM_011515782.2:c.1357G>A | XP_011514084.1:p.Glu453Lys | |
| XM_017011739.1:c.2185G>A | XP_016867228.1:p.Glu729Lys | |
| XM_017011740.1:c.2161G>A | XP_016867229.1:p.Glu721Lys | |
| NM_000083.3:c.2611G>A MANE Select | NP_000074.3:p.Glu871Lys | |
| NR_046453.2:n.2566G>A |