Linked Data
dbSNP Id:
rs1166018774
gnomAD v2:
5-95751817-G-C
gnomAD v3:
5-96416113-G-C
gnomAD v4:
5-96416113-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416113G>C , CM000667.2:g.96416113G>C | GRCh38 |
| NC_000005.9:g.95751817G>C , CM000667.1:g.95751817G>C | GRCh37 |
| NC_000005.8:g.95777573G>C | NCBI36 |
| NG_021161.1:g.22169C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.629C>G MANE Select | ENSP00000308024.2:p.Thr210Ser | |
| ENST00000311106.7:c.629C>G | ENSP00000308024.2:p.Thr210Ser | |
| ENST00000508626.5:c.488C>G | ENSP00000421600.1:p.Thr163Ser | |
| NM_000439.4:c.629C>G | NP_000430.3:p.Thr210Ser | |
| NM_001177875.1:c.488C>G | NP_001171346.1:p.Thr163Ser | |
| NR_130776.1:n.354+36461G>C | ||
| NM_000439.5:c.629C>G MANE Select | NP_000430.3:p.Thr210Ser | |
| NM_001177875.2:c.488C>G | NP_001171346.1:p.Thr163Ser |