Linked Data
ClinVar Variation Id:
235265
dbSNP Id:
rs140451075
ExAC:
7:2582895 C / G
gnomAD v2:
7-2582895-C-G
gnomAD v3:
7-2543261-C-G
gnomAD v4:
7-2543261-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2543261C>G , CM000669.2:g.2543261C>G | GRCh38 |
| NC_000007.13:g.2582895C>G , CM000669.1:g.2582895C>G | GRCh37 |
| NC_000007.12:g.2549421C>G | NCBI36 |
| NG_032167.1:g.17498G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340611.9:c.866G>C MANE Select | ENSP00000339637.4:p.Cys289Ser | |
| ENST00000340611.8:c.866G>C | ENSP00000339637.4:p.Cys289Ser | |
| ENST00000421712.1:c.*211G>C | ENSP00000409209.2:n.*211G>C | |
| ENST00000467558.5:n.1148G>C | ||
| ENST00000469750.5:n.1356G>C | ||
| ENST00000493232.5:n.992G>C | ||
| NM_152743.3:c.866G>C | NP_689956.2:p.Cys289Ser | |
| XM_005249643.3:c.866G>C | XP_005249700.1:p.Cys289Ser | |
| XM_011515177.1:c.866G>C | XP_011513479.1:p.Cys289Ser | |
| XM_011515178.1:c.866G>C | XP_011513480.1:p.Cys289Ser | |
| XM_011515179.1:c.863G>C | XP_011513481.1:p.Cys288Ser | |
| XM_011515180.1:c.836G>C | XP_011513482.1:p.Cys279Ser | |
| XM_011515181.1:c.866G>C | XP_011513483.1:p.Cys289Ser | |
| XM_011515182.1:c.866G>C | XP_011513484.1:p.Cys289Ser | |
| XM_011515183.1:c.341G>C | XP_011513485.1:p.Cys114Ser | |
| XM_011515184.1:c.341G>C | XP_011513486.1:p.Cys114Ser | |
| XM_011515185.1:c.866G>C | XP_011513487.1:p.Cys289Ser | |
| XM_011515186.1:c.866G>C | XP_011513488.1:p.Cys289Ser | |
| NM_001350626.1:c.866G>C | NP_001337555.1:p.Cys289Ser | |
| NM_001350627.1:c.341G>C | NP_001337556.1:p.Cys114Ser | |
| NR_146879.1:n.1159G>C | ||
| XM_011515177.2:c.866G>C | XP_011513479.1:p.Cys289Ser | |
| XM_011515179.2:c.863G>C | XP_011513481.1:p.Cys288Ser | |
| XM_011515181.2:c.866G>C | XP_011513483.1:p.Cys289Ser | |
| XM_011515182.2:c.866G>C | XP_011513484.1:p.Cys289Ser | |
| XM_011515184.3:c.341G>C | XP_011513486.1:p.Cys114Ser | |
| XM_011515186.2:c.866G>C | XP_011513488.1:p.Cys289Ser | |
| XM_017011833.1:c.863G>C | XP_016867322.1:p.Cys288Ser | |
| XM_017011834.1:c.863G>C | XP_016867323.1:p.Cys288Ser | |
| XM_017011836.2:c.866G>C | XP_016867325.1:p.Cys289Ser | |
| NM_152743.4:c.866G>C MANE Select | NP_689956.2:p.Cys289Ser | |
| NM_001350626.2:c.866G>C | NP_001337555.1:p.Cys289Ser | |
| NM_001350627.2:c.341G>C | NP_001337556.1:p.Cys114Ser | |
| NR_146879.2:n.925G>C |