Linked Data
dbSNP Id:
rs772689446
ExAC:
7:143047737 C / A
gnomAD v2:
7-143047737-C-A
gnomAD v4:
7-143350644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350644C>A , CM000669.2:g.143350644C>A | GRCh38 |
| NC_000007.13:g.143047737C>A , CM000669.1:g.143047737C>A | GRCh37 |
| NC_000007.12:g.142757859C>A | NCBI36 |
| NG_009815.1:g.39519C>A | |
| NG_009815.2:g.39519C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2585C>A | ENSP00000498052.2:p.Ala862Asp | |
| ENST00000343257.7:c.2585C>A MANE Select | ENSP00000339867.2:p.Ala862Asp | |
| ENST00000432192.6:c.2409C>A | ||
| ENST00000343257.6:c.2585C>A | ENSP00000339867.2:p.Ala862Asp | |
| NM_000083.2:c.2585C>A | NP_000074.2:p.Ala862Asp | |
| NR_046453.1:n.2525C>A | ||
| XM_011515781.1:c.2609C>A | XP_011514083.1:p.Ala870Asp | |
| XM_011515782.1:c.1331C>A | XP_011514084.1:p.Ala444Asp | |
| XM_011515782.2:c.1331C>A | XP_011514084.1:p.Ala444Asp | |
| XM_017011739.1:c.2159C>A | XP_016867228.1:p.Ala720Asp | |
| XM_017011740.1:c.2135C>A | XP_016867229.1:p.Ala712Asp | |
| NM_000083.3:c.2585C>A MANE Select | NP_000074.3:p.Ala862Asp | |
| NR_046453.2:n.2540C>A |