Linked Data
dbSNP Id:
rs768989814
ExAC:
16:1497026 A / G
gnomAD v2:
16-1497026-A-G
gnomAD v4:
16-1447025-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447025A>G , CM000678.2:g.1447025A>G | GRCh38 |
| NC_000016.9:g.1497026A>G , CM000678.1:g.1497026A>G | GRCh37 |
| NC_000016.8:g.1437027A>G | NCBI36 |
| NG_007567.1:g.33060T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2312T>C | ENSP00000514703.1:p.Val771Ala | |
| ENST00000699948.1:c.*625T>C | ENSP00000514704.1:n.*625T>C | |
| ENST00000382745.9:c.2312T>C MANE Select | ENSP00000372193.4:p.Val771Ala | |
| ENST00000262318.12:c.2241T>C | ENSP00000262318.8:p.Gly747= | |
| ENST00000382745.8:c.2312T>C | ENSP00000372193.4:p.Val771Ala | |
| ENST00000448525.5:c.2240T>C | ENSP00000410907.1:p.Val747Ala | |
| ENST00000563642.6:n.2381T>C | ||
| ENST00000565092.6:n.1347T>C | ||
| ENST00000567836.2:n.553T>C | ||
| NM_001114331.2:c.2240T>C | NP_001107803.1:p.Val747Ala | |
| NM_001287.5:c.2312T>C | NP_001278.1:p.Val771Ala | |
| XM_011522354.1:c.2138T>C | XP_011520656.1:p.Val713Ala | |
| NM_001287.6:c.2312T>C MANE Select | NP_001278.1:p.Val771Ala | |
| NM_001114331.3:c.2240T>C | NP_001107803.1:p.Val747Ala |