Linked Data
ClinVar Variation Id:
2800084
ClinVar RCV Id:
RCV003603492
MyVariant Identifiers:
chr19:g.13004301T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893487T>C , CM000681.2:g.12893487T>C | GRCh38 |
| NC_000019.9:g.13004301T>C , CM000681.1:g.13004301T>C | GRCh37 |
| NC_000019.8:g.12865301T>C | NCBI36 |
| NG_009292.1:g.7328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.339T>C MANE Select | ENSP00000222214.4:p.Tyr113= | |
| ENST00000222214.9:c.339T>C | ENSP00000222214.4:p.Tyr113= | |
| ENST00000421816.6:n.317T>C | ||
| ENST00000585420.5:n.704T>C | ||
| ENST00000587072.1:c.387T>C | ENSP00000468584.1:p.Tyr129= | |
| ENST00000587832.5:n.396T>C | ||
| ENST00000588905.5:c.303T>C | ENSP00000465770.1:p.Tyr101= | |
| ENST00000589039.5:c.276T>C | ENSP00000465618.1:p.Tyr92= | |
| ENST00000590530.5:c.394T>C | ENSP00000468452.1:p.Trp132Arg | |
| ENST00000590627.5:n.704T>C | ||
| ENST00000591043.1:n.375T>C | ||
| ENST00000591470.5:c.339T>C | ENSP00000466845.1:p.Tyr113= | |
| NM_000159.3:c.339T>C | NP_000150.1:p.Tyr113= | |
| NM_013976.3:c.339T>C | NP_039663.1:p.Tyr113= | |
| NR_102316.1:n.502T>C | ||
| NR_102317.1:n.755T>C | ||
| XM_006722721.2:c.339T>C | XP_006722784.1:p.Tyr113= | |
| XM_011527899.1:c.339T>C | XP_011526201.1:p.Tyr113= | |
| XM_011527900.1:c.339T>C | XP_011526202.1:p.Tyr113= | |
| XM_011527899.2:c.339T>C | XP_011526201.1:p.Tyr113= | |
| XM_011527900.2:c.339T>C | XP_011526202.1:p.Tyr113= | |
| XM_017026580.1:c.339T>C | XP_016882069.1:p.Tyr113= | |
| NM_000159.4:c.339T>C MANE Select | NP_000150.1:p.Tyr113= | |
| NM_013976.4:c.339T>C | NP_039663.1:p.Tyr113= | |
| NM_013976.5:c.339T>C | NP_039663.1:p.Tyr113= |