Linked Data
dbSNP Id:
rs1160950660
gnomAD v2:
7-143047569-G-A
gnomAD v4:
7-143350476-G-A
COSMIC:
COSM3635206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350476G>A , CM000669.2:g.143350476G>A | GRCh38 |
| NC_000007.13:g.143047569G>A , CM000669.1:g.143047569G>A | GRCh37 |
| NC_000007.12:g.142757691G>A | NCBI36 |
| NG_009815.1:g.39351G>A | |
| NG_009815.2:g.39351G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.2508G>A | ENSP00000498052.2:p.Lys836= | |
| ENST00000343257.7:c.2508G>A MANE Select | ENSP00000339867.2:p.Lys836= | |
| ENST00000432192.6:c.2332G>A | ||
| ENST00000343257.6:c.2508G>A | ENSP00000339867.2:p.Lys836= | |
| NM_000083.2:c.2508G>A | NP_000074.2:p.Lys836= | |
| NR_046453.1:n.2448G>A | ||
| XM_011515781.1:c.2532G>A | XP_011514083.1:p.Lys844= | |
| XM_011515782.1:c.1254G>A | XP_011514084.1:p.Lys418= | |
| XM_011515782.2:c.1254G>A | XP_011514084.1:p.Lys418= | |
| XM_017011739.1:c.2082G>A | XP_016867228.1:p.Lys694= | |
| XM_017011740.1:c.2058G>A | XP_016867229.1:p.Lys686= | |
| NM_000083.3:c.2508G>A MANE Select | NP_000074.3:p.Lys836= | |
| NR_046453.2:n.2463G>A |