Linked Data
dbSNP Id:
rs765237258
ExAC:
16:90002161 C / T
gnomAD v2:
16-90002161-C-T
gnomAD v3:
16-89935753-C-T
gnomAD v4:
16-89935753-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935753C>T , CM000678.2:g.89935753C>T | GRCh38 |
| NC_000016.9:g.90002161C>T , CM000678.1:g.90002161C>T | GRCh37 |
| NC_000016.8:g.88529662C>T | NCBI36 |
| NG_027810.1:g.18745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.1302C>T MANE Select | ENSP00000320295.7:p.Gly434= | |
| ENST00000680788.1:n.4723C>T | ||
| ENST00000315491.11:c.1302C>T | ENSP00000320295.7:p.Gly434= | |
| ENST00000554444.5:c.1086C>T | ENSP00000451617.1:p.Gly362= | |
| ENST00000555576.5:c.277+2175C>T | ENSP00000452554.1:n.277+2175C>T | |
| ENST00000555609.5:c.*1387C>T | ENSP00000451276.1:n.*1387C>T | |
| ENST00000556922.1:c.2343C>T | ENSP00000451560.1:p.Gly781= | |
| NM_001197181.1:c.1086C>T | NP_001184110.1:p.Gly362= | |
| NM_006086.3:c.1302C>T | NP_006077.2:p.Gly434= | |
| NM_006086.4:c.1302C>T MANE Select | NP_006077.2:p.Gly434= | |
| NM_001197181.2:c.1086C>T | NP_001184110.1:p.Gly362= |