Linked Data
dbSNP Id:
rs770230157
gnomAD v2:
16-3778064-C-T
gnomAD v3:
16-3728063-C-T
gnomAD v4:
16-3728063-C-T
COSMIC:
COSM243843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728063C>T , CM000678.2:g.3728063C>T | GRCh38 |
| NC_000016.9:g.3778064C>T , CM000678.1:g.3778064C>T | GRCh37 |
| NC_000016.8:g.3718065C>T | NCBI36 |
| NG_009873.1:g.157058G>A | |
| NG_009873.2:g.157651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6984G>A MANE Select | ENSP00000262367.5:p.Ser2328= | |
| ENST00000262367.9:c.6984G>A | ENSP00000262367.5:p.Ser2328= | |
| ENST00000382070.7:c.6870G>A | ENSP00000371502.3:p.Ser2290= | |
| NM_001079846.1:c.6870G>A | NP_001073315.1:p.Ser2290= | |
| NM_004380.2:c.6984G>A | NP_004371.2:p.Ser2328= | |
| XM_005255124.3:c.6939G>A | XP_005255181.1:p.Ser2313= | |
| XM_005255125.3:c.6567G>A | XP_005255182.1:p.Ser2189= | |
| XM_006720848.2:c.6723G>A | XP_006720911.1:p.Ser2241= | |
| XM_011522380.1:c.6930G>A | XP_011520682.1:p.Ser2310= | |
| XM_011522381.1:c.6231G>A | XP_011520683.1:p.Ser2077= | |
| XM_005255124.4:c.6939G>A | XP_005255181.1:p.Ser2313= | |
| XM_005255125.4:c.6567G>A | XP_005255182.1:p.Ser2189= | |
| XM_006720848.3:c.6723G>A | XP_006720911.1:p.Ser2241= | |
| XM_011522381.2:c.6231G>A | XP_011520683.1:p.Ser2077= | |
| XM_017022944.1:c.6978G>A | XP_016878433.1:p.Ser2326= | |
| NM_004380.3:c.6984G>A MANE Select | NP_004371.2:p.Ser2328= |