Linked Data
ClinVar Variation Id:
371176
ClinVar RCV Id:
RCV000409274
dbSNP Id:
rs752334462
ExAC:
19:13004344 C / T
gnomAD v2:
19-13004344-C-T
gnomAD v3:
19-12893530-C-T
gnomAD v4:
19-12893530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893530C>T , CM000681.2:g.12893530C>T | GRCh38 |
| NC_000019.9:g.13004344C>T , CM000681.1:g.13004344C>T | GRCh37 |
| NC_000019.8:g.12865344C>T | NCBI36 |
| NG_009292.1:g.7371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.382C>T MANE Select | ENSP00000222214.4:p.Arg128Ter | |
| ENST00000222214.9:c.382C>T | ENSP00000222214.4:p.Arg128Ter | |
| ENST00000421816.6:n.360C>T | ||
| ENST00000585420.5:n.747C>T | ||
| ENST00000587832.5:n.439C>T | ||
| ENST00000588905.5:c.346C>T | ENSP00000465770.1:p.Arg116Ter | |
| ENST00000589039.5:c.319C>T | ENSP00000465618.1:p.Arg107Ter | |
| ENST00000590530.5:c.437C>T | ENSP00000468452.1:p.Pro146Leu | |
| ENST00000590627.5:n.747C>T | ||
| ENST00000591043.1:n.418C>T | ||
| ENST00000591470.5:c.382C>T | ENSP00000466845.1:p.Arg128Ter | |
| NM_000159.3:c.382C>T | NP_000150.1:p.Arg128Ter | |
| NM_013976.3:c.382C>T | NP_039663.1:p.Arg128Ter | |
| NR_102316.1:n.545C>T | ||
| NR_102317.1:n.798C>T | ||
| XM_006722721.2:c.382C>T | XP_006722784.1:p.Arg128Ter | |
| XM_011527899.1:c.382C>T | XP_011526201.1:p.Arg128Ter | |
| XM_011527900.1:c.382C>T | XP_011526202.1:p.Arg128Ter | |
| XM_011527899.2:c.382C>T | XP_011526201.1:p.Arg128Ter | |
| XM_011527900.2:c.382C>T | XP_011526202.1:p.Arg128Ter | |
| XM_017026580.1:c.382C>T | XP_016882069.1:p.Arg128Ter | |
| NM_000159.4:c.382C>T MANE Select | NP_000150.1:p.Arg128Ter | |
| NM_013976.4:c.382C>T | NP_039663.1:p.Arg128Ter | |
| NM_013976.5:c.382C>T | NP_039663.1:p.Arg128Ter |