Linked Data
dbSNP Id:
rs962878530
ExAC:
6:139694496 T / C
gnomAD v2:
6-139694496-T-C
gnomAD v3:
6-139373359-T-C
gnomAD v4:
6-139373359-T-C
COSMIC:
COSM5484809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373359T>C , CM000668.2:g.139373359T>C | GRCh38 |
| NC_000006.11:g.139694496T>C , CM000668.1:g.139694496T>C | GRCh37 |
| NC_000006.10:g.139736189T>C | NCBI36 |
| NG_016169.1:g.6290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.586A>G MANE Select | ENSP00000356623.2:p.Ser196Gly | |
| ENST00000367651.3:c.586A>G | ENSP00000356623.2:p.Ser196Gly | |
| ENST00000536159.2:c.586A>G | ENSP00000442831.1:p.Ser196Gly | |
| ENST00000537332.2:c.601A>G | ENSP00000444198.2:p.Ser201Gly | |
| ENST00000618718.1:c.477-62A>G | ENSP00000479918.1:n.477-62A>G | |
| NM_001168388.2:c.586A>G | NP_001161860.1:p.Ser196Gly | |
| NM_001168389.2:c.601A>G | NP_001161861.2:p.Ser201Gly | |
| NM_006079.4:c.586A>G | NP_006070.2:p.Ser196Gly | |
| NM_006079.5:c.586A>G MANE Select | NP_006070.2:p.Ser196Gly | |
| NM_001168388.3:c.586A>G | NP_001161860.1:p.Ser196Gly | |
| NM_001168389.3:c.601A>G | NP_001161861.2:p.Ser201Gly |