Linked Data
dbSNP Id:
rs370012487
gnomAD v2:
1-160851786-G-T
gnomAD v3:
1-160881996-G-T
gnomAD v4:
1-160881996-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881996G>T , CM000663.2:g.160881996G>T | GRCh38 |
| NC_000001.10:g.160851786G>T , CM000663.1:g.160851786G>T | GRCh37 |
| NC_000001.9:g.159118410G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.366C>A MANE Select | ENSP00000323587.3:p.Thr122= | |
| ENST00000326245.3:c.366C>A | ENSP00000323587.3:p.Thr122= | |
| ENST00000464077.1:n.300C>A | ||
| NM_017625.2:c.366C>A | NP_060095.2:p.Thr122= | |
| NM_017625.3:c.366C>A MANE Select | NP_060095.2:p.Thr122= |