Linked Data
dbSNP Id:
rs530916734
ExAC:
6:139694549 C / A
gnomAD v2:
6-139694549-C-A
gnomAD v3:
6-139373412-C-A
gnomAD v4:
6-139373412-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373412C>A , CM000668.2:g.139373412C>A | GRCh38 |
| NC_000006.11:g.139694549C>A , CM000668.1:g.139694549C>A | GRCh37 |
| NC_000006.10:g.139736242C>A | NCBI36 |
| NG_016169.1:g.6237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.533G>T MANE Select | ENSP00000356623.2:p.Gly178Val | |
| ENST00000367651.3:c.533G>T | ENSP00000356623.2:p.Gly178Val | |
| ENST00000536159.2:c.533G>T | ENSP00000442831.1:p.Gly178Val | |
| ENST00000537332.2:c.548G>T | ENSP00000444198.2:p.Gly183Val | |
| ENST00000618718.1:c.476+57G>T | ENSP00000479918.1:n.476+57G>T | |
| NM_001168388.2:c.533G>T | NP_001161860.1:p.Gly178Val | |
| NM_001168389.2:c.548G>T | NP_001161861.2:p.Gly183Val | |
| NM_006079.4:c.533G>T | NP_006070.2:p.Gly178Val | |
| NM_006079.5:c.533G>T MANE Select | NP_006070.2:p.Gly178Val | |
| NM_001168388.3:c.533G>T | NP_001161860.1:p.Gly178Val | |
| NM_001168389.3:c.548G>T | NP_001161861.2:p.Gly183Val |