Linked Data
dbSNP Id:
rs1560627232
gnomAD v4:
4-125468795-T-G
MyVariant Identifiers:
chr4:g.126389950T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125468795T>G , CM000666.2:g.125468795T>G | GRCh38 |
| NC_000004.11:g.126389950T>G , CM000666.1:g.126389950T>G | GRCh37 |
| NC_000004.10:g.126609400T>G | NCBI36 |
| NG_033865.1:g.157384T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.12189T>G MANE Select | ENSP00000377862.4:p.Thr4063= | |
| ENST00000674496.2:c.6960T>G | ENSP00000501473.2:p.Thr2320= | |
| ENST00000335110.5:c.6972T>G | ENSP00000335169.5:p.Thr2324= | |
| ENST00000394329.7:c.12183T>G | ENSP00000377862.3:p.Thr4061= | |
| NM_001291285.1:c.12189T>G | NP_001278214.1:p.Thr4063= | |
| NM_001291303.1:c.12189T>G | NP_001278232.1:p.Thr4063= | |
| NM_024582.4:c.12183T>G | NP_078858.4:p.Thr4061= | |
| XM_011532236.1:c.12189T>G | XP_011530538.1:p.Thr4063= | |
| XM_011532237.1:c.6960T>G | XP_011530539.1:p.Thr2320= | |
| XM_011532236.2:c.12189T>G | XP_011530538.1:p.Thr4063= | |
| XM_011532237.2:c.6960T>G | XP_011530539.1:p.Thr2320= | |
| NM_001291285.2:c.12189T>G | NP_001278214.1:p.Thr4063= | |
| NM_001291303.3:c.12189T>G MANE Select | NP_001278232.1:p.Thr4063= | |
| NM_024582.5:c.12183T>G | NP_078858.4:p.Thr4061= | |
| NM_001291285.3:c.12189T>G | NP_001278214.1:p.Thr4063= | |
| NM_024582.6:c.12183T>G | NP_078858.4:p.Thr4061= |