Linked Data
ClinVar Variation Id:
2675871
ClinVar RCV Id:
RCV003461678
dbSNP Id:
rs768836114
ExAC:
19:13004301 T / A
gnomAD v2:
19-13004301-T-A
gnomAD v4:
19-12893487-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893487T>A , CM000681.2:g.12893487T>A | GRCh38 |
| NC_000019.9:g.13004301T>A , CM000681.1:g.13004301T>A | GRCh37 |
| NC_000019.8:g.12865301T>A | NCBI36 |
| NG_009292.1:g.7328T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.339T>A MANE Select | ENSP00000222214.4:p.Tyr113Ter | |
| ENST00000222214.9:c.339T>A | ENSP00000222214.4:p.Tyr113Ter | |
| ENST00000421816.6:n.317T>A | ||
| ENST00000585420.5:n.704T>A | ||
| ENST00000587072.1:c.387T>A | ENSP00000468584.1:p.Tyr129Ter | |
| ENST00000587832.5:n.396T>A | ||
| ENST00000588905.5:c.303T>A | ENSP00000465770.1:p.Tyr101Ter | |
| ENST00000589039.5:c.276T>A | ENSP00000465618.1:p.Tyr92Ter | |
| ENST00000590530.5:c.394T>A | ENSP00000468452.1:p.Trp132Arg | |
| ENST00000590627.5:n.704T>A | ||
| ENST00000591043.1:n.375T>A | ||
| ENST00000591470.5:c.339T>A | ENSP00000466845.1:p.Tyr113Ter | |
| NM_000159.3:c.339T>A | NP_000150.1:p.Tyr113Ter | |
| NM_013976.3:c.339T>A | NP_039663.1:p.Tyr113Ter | |
| NR_102316.1:n.502T>A | ||
| NR_102317.1:n.755T>A | ||
| XM_006722721.2:c.339T>A | XP_006722784.1:p.Tyr113Ter | |
| XM_011527899.1:c.339T>A | XP_011526201.1:p.Tyr113Ter | |
| XM_011527900.1:c.339T>A | XP_011526202.1:p.Tyr113Ter | |
| XM_011527899.2:c.339T>A | XP_011526201.1:p.Tyr113Ter | |
| XM_011527900.2:c.339T>A | XP_011526202.1:p.Tyr113Ter | |
| XM_017026580.1:c.339T>A | XP_016882069.1:p.Tyr113Ter | |
| NM_000159.4:c.339T>A MANE Select | NP_000150.1:p.Tyr113Ter | |
| NM_013976.4:c.339T>A | NP_039663.1:p.Tyr113Ter | |
| NM_013976.5:c.339T>A | NP_039663.1:p.Tyr113Ter |