Linked Data
ClinVar Variation Id:
1779416
ClinVar RCV Id:
RCV002401583
dbSNP Id:
rs1371008626
gnomAD v2:
19-45856506-G-A
gnomAD v4:
19-45353248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45353248G>A , CM000681.2:g.45353248G>A | GRCh38 |
| NC_000019.9:g.45856506G>A , CM000681.1:g.45856506G>A | GRCh37 |
| NC_000019.8:g.50548346G>A | NCBI36 |
| NG_007067.2:g.22340C>T , LRG_461:g.22340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1752C>T | ENSP00000375808.4:p.Tyr584= | |
| ENST00000682414.1:c.1752C>T | ENSP00000507019.1:p.Tyr584= | |
| ENST00000682508.1:n.1781C>T | ||
| ENST00000684218.1:c.*1010C>T | ENSP00000507804.1:n.*1010C>T | |
| ENST00000684264.1:n.1308C>T | ||
| ENST00000684407.1:c.1629C>T | ENSP00000507775.1:p.Tyr543= | |
| ENST00000684458.1:c.*238C>T | ENSP00000508260.1:n.*238C>T | |
| ENST00000684468.1:n.1464C>T | ||
| ENST00000391945.10:c.1752C>T MANE Select | ENSP00000375809.4:p.Tyr584= | |
| ENST00000587376.6:c.811C>T | ||
| ENST00000646507.1:n.1849C>T | ||
| ENST00000391941.6:c.1680C>T | ENSP00000375805.2:p.Tyr560= | |
| ENST00000391942.6:n.923C>T | ||
| ENST00000391944.7:c.1518C>T | ENSP00000375808.3:p.Tyr506= | |
| ENST00000391945.8:c.1752C>T | ENSP00000375809.3:p.Tyr584= | |
| ENST00000587376.5:c.811C>T | ||
| ENST00000588652.5:n.1840C>T | ||
| NM_000400.3:c.1752C>T , LRG_461t1:c.1752C>T | NP_000391.1:p.Tyr584= | |
| XM_011526611.1:c.1674C>T | XP_011524913.1:p.Tyr558= | |
| XR_935763.1:n.1735C>T | ||
| XM_011526611.2:c.1674C>T | XP_011524913.1:p.Tyr558= | |
| XM_017026467.1:c.1629C>T | XP_016881956.1:p.Tyr543= | |
| XR_001753633.2:n.1799C>T | ||
| XR_001753634.2:n.1735C>T | ||
| NM_000400.4:c.1752C>T MANE Select | NP_000391.1:p.Tyr584= |