Linked Data
dbSNP Id:
rs1777194935
gnomAD v4:
6-33432687-A-G
MyVariant Identifiers:
chr6:g.33400464A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33432687A>G , CM000668.2:g.33432687A>G | GRCh38 |
| NC_000006.11:g.33400464A>G , CM000668.1:g.33400464A>G | GRCh37 |
| NC_000006.10:g.33508442A>G | NCBI36 |
| NG_016137.1:g.17618A>G | |
| NG_016137.2:g.17618A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682587.1:c.132A>G | ENSP00000507403.1:p.Gln44= | |
| ENST00000418600.7:c.390A>G | ENSP00000403636.3:p.Gln130= | |
| ENST00000449372.7:c.390A>G | ENSP00000416519.4:p.Gln130= | |
| ENST00000629380.3:c.390A>G | ENSP00000486463.1:p.Gln130= | |
| ENST00000638142.2:c.390A>G | ENSP00000490803.1:p.Gln130= | |
| ENST00000644458.1:c.390A>G | ENSP00000495541.1:p.Gln130= | |
| ENST00000645250.1:c.213A>G | ENSP00000494861.1:p.Gln71= | |
| ENST00000646630.1:c.390A>G MANE Select | ENSP00000496007.1:p.Gln130= | |
| ENST00000293748.9:c.345A>G | ENSP00000293748.6:p.Gln115= | |
| ENST00000418600.6:c.390A>G | ENSP00000403636.3:p.Gln130= | |
| ENST00000428982.4:c.213A>G | ENSP00000412475.2:p.Gln71= | |
| ENST00000449372.6:c.390A>G | ENSP00000416519.3:p.Gln130= | |
| ENST00000479510.2:n.585A>G | ||
| ENST00000628646.2:c.390A>G | ENSP00000486431.1:p.Gln130= | |
| ENST00000629380.2:c.390A>G | ENSP00000486463.1:p.Gln130= | |
| NM_006772.2:c.390A>G | NP_006763.2:p.Gln130= | |
| NM_001130066.1:c.390A>G | NP_001123538.1:p.Gln130= | |
| NM_001130066.2:c.390A>G | NP_001123538.1:p.Gln130= | |
| NM_006772.3:c.390A>G MANE Select | NP_006763.2:p.Gln130= |