Linked Data
ClinVar Variation Id:
1027666
ClinVar RCV Id:
RCV001328497
dbSNP Id:
rs371884821
gnomAD v4:
2-3387984-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3387984G>T , CM000664.2:g.3387984G>T | GRCh38 |
| NC_000002.11:g.3391755G>T , CM000664.1:g.3391755G>T | GRCh37 |
| NC_000002.10:g.3370762G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.361G>T MANE Select | ENSP00000324318.5:p.Glu121Ter | |
| ENST00000324266.9:c.361G>T | ENSP00000324318.5:p.Glu121Ter | |
| ENST00000382110.6:c.361G>T | ENSP00000371544.2:p.Glu121Ter | |
| ENST00000482645.1:n.522G>T | ||
| NM_016030.5:c.361G>T | NP_057114.5:p.Glu121Ter | |
| XM_005264693.2:c.361G>T | XP_005264750.1:p.Glu121Ter | |
| XM_011510350.1:c.361G>T | XP_011508652.1:p.Glu121Ter | |
| XM_011510351.1:c.361G>T | XP_011508653.1:p.Glu121Ter | |
| XM_011510352.1:c.361G>T | XP_011508654.1:p.Glu121Ter | |
| XM_011510353.1:c.361G>T | XP_011508655.1:p.Glu121Ter | |
| XM_011510354.1:c.361G>T | XP_011508656.1:p.Glu121Ter | |
| XR_426956.2:n.559G>T | ||
| XR_922679.1:n.570G>T | ||
| NM_001321102.1:c.361G>T | NP_001308031.1:p.Glu121Ter | |
| XM_011510350.2:c.361G>T | XP_011508652.1:p.Glu121Ter | |
| XM_011510352.2:c.361G>T | XP_011508654.1:p.Glu121Ter | |
| XM_011510353.2:c.361G>T | XP_011508655.1:p.Glu121Ter | |
| XM_011510354.2:c.361G>T | XP_011508656.1:p.Glu121Ter | |
| XM_017004257.1:c.361G>T | XP_016859746.1:p.Glu121Ter | |
| XR_001738761.1:n.997G>T | ||
| XR_001738762.1:n.997G>T | ||
| XR_426956.3:n.997G>T | ||
| NM_016030.6:c.361G>T MANE Select | NP_057114.5:p.Glu121Ter | |
| NM_001321102.2:c.361G>T | NP_001308031.1:p.Glu121Ter |