Linked Data
dbSNP Id:
rs761885773
ExAC:
16:70517778 T / C
gnomAD v2:
16-70517778-T-C
gnomAD v4:
16-70483875-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483875T>C , CM000678.2:g.70483875T>C | GRCh38 |
| NC_000016.9:g.70517778T>C , CM000678.1:g.70517778T>C | GRCh37 |
| NC_000016.8:g.69075279T>C | NCBI36 |
| NG_027529.1:g.44680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1881A>G | ENSP00000461912.2:n.*1881A>G | |
| ENST00000703106.1:c.1850A>G | ENSP00000515173.1:n.1850A>G | |
| ENST00000703107.1:c.*1734A>G | ENSP00000515174.1:n.*1734A>G | |
| ENST00000703108.1:c.*253A>G | ENSP00000515175.1:n.*253A>G | |
| ENST00000703109.1:c.1838A>G | ENSP00000515176.1:p.Asn613Ser | |
| ENST00000703110.1:c.*1307A>G | ENSP00000515177.1:n.*1307A>G | |
| ENST00000703111.1:n.1812A>G | ||
| ENST00000703112.1:n.2578A>G | ||
| ENST00000703113.1:c.*1218A>G | ENSP00000515178.1:n.*1218A>G | |
| ENST00000703114.1:c.*454A>G | ENSP00000515179.1:n.*454A>G | |
| ENST00000703115.1:c.918A>G | ENSP00000515180.1:n.918A>G | |
| ENST00000323786.10:c.1805A>G MANE Select | ENSP00000315775.5:p.Asn602Ser | |
| ENST00000564415.6:c.*1585A>G | ENSP00000456653.2:n.*1585A>G | |
| ENST00000674443.1:c.1730A>G | ENSP00000501405.1:p.Asn577Ser | |
| ENST00000323786.9:c.1805A>G | ENSP00000315775.5:p.Asn602Ser | |
| ENST00000393612.8:c.1742A>G | ENSP00000377236.5:p.Asn581Ser | |
| ENST00000482252.5:c.1952A>G | ENSP00000432802.1:n.1952A>G | |
| ENST00000526700.5:n.981A>G | ||
| ENST00000530314.5:n.2484A>G | ||
| ENST00000564315.1:n.265A>G | ||
| ENST00000564415.5:c.*1585A>G | ENSP00000456653.1:n.*1585A>G | |
| NM_001195139.1:c.1742A>G | NP_001182068.1:p.Asn581Ser | |
| NM_015386.2:c.1805A>G | NP_056201.2:p.Asn602Ser | |
| XM_011522981.1:c.1379A>G | XP_011521283.1:p.Asn460Ser | |
| XR_933266.1:n.1751A>G | ||
| XR_933267.1:n.1751A>G | ||
| XM_011522981.3:c.1379A>G | XP_011521283.1:p.Asn460Ser | |
| XM_024450224.1:c.824A>G | XP_024305992.1:p.Asn275Ser | |
| XR_001751889.1:n.1688A>G | ||
| XR_933266.2:n.1751A>G | ||
| NM_015386.3:c.1805A>G MANE Select | NP_056201.2:p.Asn602Ser | |
| NM_001195139.2:c.1730A>G | NP_001182068.2:p.Asn577Ser | |
| NM_001365426.1:c.1379A>G | NP_001352355.1:p.Asn460Ser | |
| NR_158212.1:n.1764A>G |