Linked Data
dbSNP Id:
rs144985706
ExAC:
1:160851949 G / C
gnomAD v2:
1-160851949-G-C
gnomAD v3:
1-160882159-G-C
gnomAD v4:
1-160882159-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882159G>C , CM000663.2:g.160882159G>C | GRCh38 |
| NC_000001.10:g.160851949G>C , CM000663.1:g.160851949G>C | GRCh37 |
| NC_000001.9:g.159118573G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326245.4:c.203C>G MANE Select | ENSP00000323587.3:p.Thr68Ser | |
| ENST00000326245.3:c.203C>G | ENSP00000323587.3:p.Thr68Ser | |
| ENST00000464077.1:n.137C>G | ||
| NM_017625.2:c.203C>G | NP_060095.2:p.Thr68Ser | |
| NM_017625.3:c.203C>G MANE Select | NP_060095.2:p.Thr68Ser |