Linked Data
dbSNP Id:
rs1380080270
gnomAD v2:
17-79827074-C-T
gnomAD v3:
17-81869198-C-T
gnomAD v4:
17-81869198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81869198C>T , CM000679.2:g.81869198C>T | GRCh38 |
| NC_000017.10:g.79827074C>T , CM000679.1:g.79827074C>T | GRCh37 |
| NC_000017.9:g.77420363C>T | NCBI36 |
| NG_034210.1:g.7209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.390G>A MANE Select | ENSP00000269321.7:p.Gln130= | |
| ENST00000269321.11:c.390G>A | ENSP00000269321.7:p.Gln130= | |
| ENST00000400721.8:c.390G>A | ENSP00000383556.4:p.Gln130= | |
| ENST00000541078.6:c.390G>A | ENSP00000441348.2:p.Gln130= | |
| ENST00000578351.1:c.*34G>A | ENSP00000462323.1:n.*34G>A | |
| ENST00000579121.5:c.390G>A | ENSP00000462960.1:p.Gln130= | |
| ENST00000580033.5:c.*34G>A | ENSP00000463530.1:n.*34G>A | |
| ENST00000580685.5:c.390G>A | ENSP00000464205.1:p.Gln130= | |
| ENST00000581876.5:c.191-123G>A | ENSP00000461956.1:n.191-123G>A | |
| ENST00000582984.5:n.592G>A | ||
| ENST00000583111.5:n.542G>A | ||
| ENST00000583791.1:n.254G>A | ||
| ENST00000583868.5:c.390G>A | ENSP00000462209.1:p.Gln130= | |
| ENST00000584461.5:c.390G>A | ENSP00000463939.1:p.Gln130= | |
| NM_001185077.2:c.390G>A | NP_001172006.1:p.Gln130= | |
| NM_001185078.2:c.390G>A | NP_001172007.1:p.Gln130= | |
| NM_001301240.1:c.390G>A | NP_001288169.1:p.Gln130= | |
| NM_001301241.1:c.390G>A | NP_001288170.1:p.Gln130= | |
| NM_001301242.1:c.390G>A | NP_001288171.1:p.Gln130= | |
| NM_001301243.1:c.525G>A | NP_001288172.1:p.Gln175= | |
| NM_004309.5:c.390G>A | NP_004300.1:p.Gln130= | |
| NR_125441.1:n.449G>A | ||
| XM_011523574.1:c.525G>A | XP_011521876.1:p.Gln175= | |
| NM_004309.6:c.390G>A MANE Select | NP_004300.1:p.Gln130= | |
| NM_001185077.3:c.390G>A | NP_001172006.1:p.Gln130= | |
| NM_001185078.3:c.390G>A | NP_001172007.1:p.Gln130= | |
| NM_001301240.2:c.390G>A | NP_001288169.1:p.Gln130= | |
| NM_001301241.2:c.390G>A | NP_001288170.1:p.Gln130= | |
| NM_001301242.2:c.390G>A | NP_001288171.1:p.Gln130= | |
| NM_001301243.2:c.525G>A | NP_001288172.1:p.Gln175= | |
| NR_125441.2:n.380G>A |