Linked Data
ClinVar Variation Id:
39783
ClinVar RCV Id:
RCV000033005
dbSNP Id:
rs387907305
gnomAD v4:
1-2228867-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228867G>T , CM000663.2:g.2228867G>T | GRCh38 |
| NC_000001.10:g.2160306G>T , CM000663.1:g.2160306G>T | GRCh37 |
| NC_000001.9:g.2150166G>T | NCBI36 |
| NG_013084.1:g.5173G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1343G>T | ||
| ENST00000378536.5:c.101G>T MANE Select | ENSP00000367797.4:p.Gly34Val | |
| ENST00000378536.4:c.101G>T | ENSP00000367797.4:p.Gly34Val | |
| NM_003036.3:c.101G>T | NP_003027.1:p.Gly34Val | |
| XM_005244775.2:c.101G>T | XP_005244832.1:p.Gly34Val | |
| XM_005244775.3:c.101G>T | XP_005244832.1:p.Gly34Val | |
| NM_003036.4:c.101G>T MANE Select | NP_003027.1:p.Gly34Val |