Linked Data
dbSNP Id:
rs762045918
ExAC:
6:139694580 C / T
gnomAD v2:
6-139694580-C-T
gnomAD v3:
6-139373443-C-T
gnomAD v4:
6-139373443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373443C>T , CM000668.2:g.139373443C>T | GRCh38 |
| NC_000006.11:g.139694580C>T , CM000668.1:g.139694580C>T | GRCh37 |
| NC_000006.10:g.139736273C>T | NCBI36 |
| NG_016169.1:g.6206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.502G>A MANE Select | ENSP00000356623.2:p.Gly168Ser | |
| ENST00000367651.3:c.502G>A | ENSP00000356623.2:p.Gly168Ser | |
| ENST00000536159.2:c.502G>A | ENSP00000442831.1:p.Gly168Ser | |
| ENST00000537332.2:c.517G>A | ENSP00000444198.2:p.Gly173Ser | |
| ENST00000618718.1:c.476+26G>A | ENSP00000479918.1:n.476+26G>A | |
| NM_001168388.2:c.502G>A | NP_001161860.1:p.Gly168Ser | |
| NM_001168389.2:c.517G>A | NP_001161861.2:p.Gly173Ser | |
| NM_006079.4:c.502G>A | NP_006070.2:p.Gly168Ser | |
| NM_006079.5:c.502G>A MANE Select | NP_006070.2:p.Gly168Ser | |
| NM_001168388.3:c.502G>A | NP_001161860.1:p.Gly168Ser | |
| NM_001168389.3:c.517G>A | NP_001161861.2:p.Gly173Ser |