Linked Data
ClinVar Variation Id:
3131689
ClinVar RCV Id:
RCV004418548
dbSNP Id:
rs146571336
ExAC:
1:28562741 G / T
gnomAD v2:
1-28562741-G-T
gnomAD v3:
1-28236230-G-T
gnomAD v4:
1-28236230-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28236230G>T , CM000663.2:g.28236230G>T | GRCh38 |
| NC_000001.10:g.28562741G>T , CM000663.1:g.28562741G>T | GRCh37 |
| NC_000001.9:g.28435328G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335514.10:c.47G>T MANE Select | ENSP00000335203.5:p.Gly16Val | |
| ENST00000335514.9:c.47G>T | ENSP00000335203.5:p.Gly16Val | |
| ENST00000465645.1:c.47G>T | ENSP00000437337.1:p.Gly16Val | |
| ENST00000468425.2:c.47G>T | ENSP00000435341.1:p.Gly16Val | |
| ENST00000497986.5:c.47G>T | ENSP00000435579.1:p.Gly16Val | |
| NM_016311.4:c.47G>T | NP_057395.1:p.Gly16Val | |
| NM_178190.2:c.47G>T | NP_835497.1:p.Gly16Val | |
| NM_178191.2:c.47G>T | NP_835498.1:p.Gly16Val | |
| NM_016311.5:c.47G>T MANE Select | NP_057395.1:p.Gly16Val | |
| NM_178190.3:c.47G>T | NP_835497.1:p.Gly16Val | |
| NM_178191.3:c.47G>T | NP_835498.1:p.Gly16Val |