Linked Data
ClinVar Variation Id:
1772699
dbSNP Id:
rs1972044981
MyVariant Identifiers:
chr19:g.45860567G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45357309G>A , CM000681.2:g.45357309G>A | GRCh38 |
| NC_000019.9:g.45860567G>A , CM000681.1:g.45860567G>A | GRCh37 |
| NC_000019.8:g.50552407G>A | NCBI36 |
| NG_007067.2:g.18279C>T , LRG_461:g.18279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1440C>T | ENSP00000375808.4:p.Thr480= | |
| ENST00000682414.1:c.1440C>T | ENSP00000507019.1:p.Thr480= | |
| ENST00000682508.1:n.1469C>T | ||
| ENST00000684218.1:c.*698C>T | ENSP00000507804.1:n.*698C>T | |
| ENST00000684264.1:n.996C>T | ||
| ENST00000684407.1:c.1317C>T | ENSP00000507775.1:p.Thr439= | |
| ENST00000684458.1:c.1370C>T | ENSP00000508260.1:p.Pro457Leu | |
| ENST00000684468.1:n.1216C>T | ||
| ENST00000391945.10:c.1440C>T MANE Select | ENSP00000375809.4:p.Thr480= | |
| ENST00000587376.6:c.563C>T | ||
| ENST00000646507.1:n.1537C>T | ||
| ENST00000391941.6:c.1368C>T | ENSP00000375805.2:p.Thr456= | |
| ENST00000391942.6:n.611C>T | ||
| ENST00000391944.7:c.1206C>T | ENSP00000375808.3:p.Thr402= | |
| ENST00000391945.8:c.1440C>T | ENSP00000375809.3:p.Thr480= | |
| ENST00000587376.5:c.563C>T | ||
| ENST00000588652.5:n.1528C>T | ||
| NM_000400.3:c.1440C>T , LRG_461t1:c.1440C>T | NP_000391.1:p.Thr480= | |
| XM_011526611.1:c.1362C>T | XP_011524913.1:p.Thr454= | |
| XR_935763.1:n.1487C>T | ||
| XM_011526611.2:c.1362C>T | XP_011524913.1:p.Thr454= | |
| XM_017026467.1:c.1317C>T | XP_016881956.1:p.Thr439= | |
| XR_001753633.2:n.1487C>T | ||
| XR_001753634.2:n.1487C>T | ||
| NM_000400.4:c.1440C>T MANE Select | NP_000391.1:p.Thr480= |