Linked Data
dbSNP Id:
rs144985706
gnomAD v2:
1-160851949-G-T
gnomAD v3:
1-160882159-G-T
gnomAD v4:
1-160882159-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882159G>T , CM000663.2:g.160882159G>T | GRCh38 |
| NC_000001.10:g.160851949G>T , CM000663.1:g.160851949G>T | GRCh37 |
| NC_000001.9:g.159118573G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326245.4:c.203C>A MANE Select | ENSP00000323587.3:p.Thr68Asn | |
| ENST00000326245.3:c.203C>A | ENSP00000323587.3:p.Thr68Asn | |
| ENST00000464077.1:n.137C>A | ||
| NM_017625.2:c.203C>A | NP_060095.2:p.Thr68Asn | |
| NM_017625.3:c.203C>A MANE Select | NP_060095.2:p.Thr68Asn |