Linked Data
ClinVar Variation Id:
2468971
ClinVar RCV Id:
RCV003207339
dbSNP Id:
rs963947198
gnomAD v2:
6-139694520-C-T
gnomAD v4:
6-139373383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373383C>T , CM000668.2:g.139373383C>T | GRCh38 |
| NC_000006.11:g.139694520C>T , CM000668.1:g.139694520C>T | GRCh37 |
| NC_000006.10:g.139736213C>T | NCBI36 |
| NG_016169.1:g.6266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.562G>A MANE Select | ENSP00000356623.2:p.Gly188Ser | |
| ENST00000367651.3:c.562G>A | ENSP00000356623.2:p.Gly188Ser | |
| ENST00000536159.2:c.562G>A | ENSP00000442831.1:p.Gly188Ser | |
| ENST00000537332.2:c.577G>A | ENSP00000444198.2:p.Gly193Ser | |
| ENST00000618718.1:c.477-86G>A | ENSP00000479918.1:n.477-86G>A | |
| NM_001168388.2:c.562G>A | NP_001161860.1:p.Gly188Ser | |
| NM_001168389.2:c.577G>A | NP_001161861.2:p.Gly193Ser | |
| NM_006079.4:c.562G>A | NP_006070.2:p.Gly188Ser | |
| NM_006079.5:c.562G>A MANE Select | NP_006070.2:p.Gly188Ser | |
| NM_001168388.3:c.562G>A | NP_001161860.1:p.Gly188Ser | |
| NM_001168389.3:c.577G>A | NP_001161861.2:p.Gly193Ser |