Linked Data
dbSNP Id:
rs371097266
ExAC:
11:66328151 G / C
gnomAD v2:
11-66328151-G-C
gnomAD v3:
11-66560680-G-C
gnomAD v4:
11-66560680-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560680G>C , CM000673.2:g.66560680G>C | GRCh38 |
| NC_000011.9:g.66328151G>C , CM000673.1:g.66328151G>C | GRCh37 |
| NC_000011.8:g.66084727G>C | NCBI36 |
| NG_013304.2:g.18761G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1785G>C MANE Select | ENSP00000426797.1:p.Thr595= | |
| ENST00000502692.5:c.1914G>C | ENSP00000422007.1:p.Thr638= | |
| ENST00000513398.1:c.1785G>C | ENSP00000426797.1:p.Thr595= | |
| NM_001104.3:c.1785G>C | NP_001095.2:p.Thr595= | |
| NM_001258371.2:c.1914G>C | NP_001245300.2:p.Thr638= | |
| NM_001104.4:c.1785G>C MANE Select | NP_001095.2:p.Thr595= | |
| NM_001258371.3:c.1914G>C | NP_001245300.2:p.Thr638= |