Linked Data
ClinVar Variation Id:
329510
dbSNP Id:
rs375824454
ExAC:
19:45858009 G / A
gnomAD v2:
19-45858009-G-A
gnomAD v3:
19-45354751-G-A
gnomAD v4:
19-45354751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45354751G>A , CM000681.2:g.45354751G>A | GRCh38 |
| NC_000019.9:g.45858009G>A , CM000681.1:g.45858009G>A | GRCh37 |
| NC_000019.8:g.50549849G>A | NCBI36 |
| NG_007067.2:g.20837C>T , LRG_461:g.20837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1644C>T | ENSP00000375808.4:p.Thr548= | |
| ENST00000682414.1:c.1644C>T | ENSP00000507019.1:p.Thr548= | |
| ENST00000682508.1:n.1673C>T | ||
| ENST00000684218.1:c.*902C>T | ENSP00000507804.1:n.*902C>T | |
| ENST00000684264.1:n.1200C>T | ||
| ENST00000684407.1:c.1521C>T | ENSP00000507775.1:p.Thr507= | |
| ENST00000684458.1:c.*130C>T | ENSP00000508260.1:n.*130C>T | |
| ENST00000684468.1:n.1356C>T | ||
| ENST00000391945.10:c.1644C>T MANE Select | ENSP00000375809.4:p.Thr548= | |
| ENST00000587376.6:c.703C>T | ||
| ENST00000646507.1:n.1741C>T | ||
| ENST00000391941.6:c.1572C>T | ENSP00000375805.2:p.Thr524= | |
| ENST00000391942.6:n.815C>T | ||
| ENST00000391944.7:c.1410C>T | ENSP00000375808.3:p.Thr470= | |
| ENST00000391945.8:c.1644C>T | ENSP00000375809.3:p.Thr548= | |
| ENST00000587376.5:c.703C>T | ||
| ENST00000588652.5:n.1732C>T | ||
| NM_000400.3:c.1644C>T , LRG_461t1:c.1644C>T | NP_000391.1:p.Thr548= | |
| XM_011526611.1:c.1566C>T | XP_011524913.1:p.Thr522= | |
| XR_935763.1:n.1627C>T | ||
| XM_011526611.2:c.1566C>T | XP_011524913.1:p.Thr522= | |
| XM_017026467.1:c.1521C>T | XP_016881956.1:p.Thr507= | |
| XR_001753633.2:n.1691C>T | ||
| XR_001753634.2:n.1627C>T | ||
| NM_000400.4:c.1644C>T MANE Select | NP_000391.1:p.Thr548= |