Linked Data
dbSNP Id:
rs771597292
ExAC:
17:79826803 G / A
gnomAD v2:
17-79826803-G-A
gnomAD v4:
17-81868927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81868927G>A , CM000679.2:g.81868927G>A | GRCh38 |
| NC_000017.10:g.79826803G>A , CM000679.1:g.79826803G>A | GRCh37 |
| NC_000017.9:g.77420092G>A | NCBI36 |
| NG_034210.1:g.7480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.564C>T MANE Select | ENSP00000269321.7:p.Asp188= | |
| ENST00000269321.11:c.564C>T | ENSP00000269321.7:p.Asp188= | |
| ENST00000400721.8:c.432C>T | ENSP00000383556.4:p.Asp144= | |
| ENST00000541078.6:c.564C>T | ENSP00000441348.2:p.Asp188= | |
| ENST00000579121.5:c.502+62C>T | ENSP00000462960.1:n.502+62C>T | |
| ENST00000580033.5:c.*208C>T | ENSP00000463530.1:n.*208C>T | |
| ENST00000580685.5:c.564C>T | ENSP00000464205.1:p.Asp188= | |
| ENST00000581876.5:c.339C>T | ENSP00000461956.1:p.Asp113= | |
| ENST00000582984.5:n.766C>T | ||
| ENST00000583868.5:c.452C>T | ENSP00000462209.1:p.Thr151Ile | |
| ENST00000584461.5:c.502+62C>T | ENSP00000463939.1:n.502+62C>T | |
| NM_001185077.2:c.564C>T | NP_001172006.1:p.Asp188= | |
| NM_001185078.2:c.432C>T | NP_001172007.1:p.Asp144= | |
| NM_001301240.1:c.502+62C>T | NP_001288169.1:n.502+62C>T | |
| NM_001301241.1:c.502+62C>T | NP_001288170.1:n.502+62C>T | |
| NM_001301242.1:c.452C>T | NP_001288171.1:p.Thr151Ile | |
| NM_001301243.1:c.699C>T | NP_001288172.1:p.Asp233= | |
| NM_004309.5:c.564C>T | NP_004300.1:p.Asp188= | |
| NR_125441.1:n.623C>T | ||
| XM_011523574.1:c.699C>T | XP_011521876.1:p.Asp233= | |
| NM_004309.6:c.564C>T MANE Select | NP_004300.1:p.Asp188= | |
| NM_001185077.3:c.564C>T | NP_001172006.1:p.Asp188= | |
| NM_001185078.3:c.432C>T | NP_001172007.1:p.Asp144= | |
| NM_001301240.2:c.502+62C>T | NP_001288169.1:n.502+62C>T | |
| NM_001301241.2:c.502+62C>T | NP_001288170.1:n.502+62C>T | |
| NM_001301242.2:c.452C>T | NP_001288171.1:p.Thr151Ile | |
| NM_001301243.2:c.699C>T | NP_001288172.1:p.Asp233= | |
| NR_125441.2:n.554C>T |