Linked Data
dbSNP Id:
rs528344809
ExAC:
3:190120128 G / T
gnomAD v2:
3-190120128-G-T
gnomAD v4:
3-190402339-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402339G>T , CM000665.2:g.190402339G>T | GRCh38 |
| NC_000003.11:g.190120128G>T , CM000665.1:g.190120128G>T | GRCh37 |
| NC_000003.10:g.191602822G>T | NCBI36 |
| NG_008149.1:g.19288G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.117G>T MANE Select | ENSP00000264734.3:p.Val39= | |
| ENST00000456423.2:c.115-7564G>T | ENSP00000414136.2:n.115-7564G>T | |
| ENST00000264734.2:c.327G>T | ENSP00000264734.2:p.Val109= | |
| ENST00000456423.1:c.325-7564G>T | ENSP00000414136.1:n.325-7564G>T | |
| ENST00000468220.1:n.309G>T | ||
| NM_006580.3:c.327G>T | NP_006571.1:p.Val109= | |
| NM_001378492.1:c.117G>T | NP_001365421.1:p.Val39= | |
| NM_001378493.1:c.117G>T | NP_001365422.1:p.Val39= | |
| NM_006580.4:c.117G>T MANE Select | NP_006571.2:p.Val39= |