Linked Data
dbSNP Id:
rs779820941
ExAC:
16:31276797 A / T
gnomAD v2:
16-31276797-A-T
gnomAD v4:
16-31265476-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265476A>T , CM000678.2:g.31265476A>T | GRCh38 |
| NC_000016.9:g.31276797A>T , CM000678.1:g.31276797A>T | GRCh37 |
| NC_000016.8:g.31184298A>T | NCBI36 |
| NG_011719.1:g.10510A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.216A>T MANE Select | ENSP00000441691.3:p.Ser72= | |
| ENST00000648685.1:c.216A>T | ENSP00000496959.1:p.Ser72= | |
| ENST00000287497.12:c.216A>T | ENSP00000287497.8:p.Ser72= | |
| ENST00000544665.7:c.216A>T | ENSP00000441691.2:p.Ser72= | |
| NM_000632.3:c.216A>T | NP_000623.2:p.Ser72= | |
| NM_001145808.1:c.216A>T | NP_001139280.1:p.Ser72= | |
| XM_006721045.1:c.216A>T | XP_006721108.1:p.Ser72= | |
| XM_011545850.1:c.1A>T | XP_011544152.1:p.Met1Leu | |
| XM_011545851.1:c.216A>T | XP_011544153.1:p.Ser72= | |
| XR_950796.1:n.306A>T | ||
| XM_011545850.2:c.1A>T | XP_011544152.1:p.Met1Leu | |
| XM_011545851.2:c.216A>T | XP_011544153.1:p.Ser72= | |
| XM_017023216.1:c.216A>T | XP_016878705.1:p.Ser72= | |
| NM_000632.4:c.216A>T MANE Select | NP_000623.2:p.Ser72= | |
| NM_001145808.2:c.216A>T | NP_001139280.1:p.Ser72= |