Linked Data
ClinVar Variation Id:
1417822
ClinVar RCV Id:
RCV001940269
dbSNP Id:
rs746258199
gnomAD v2:
19-45867141-G-T
gnomAD v4:
19-45363883-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363883G>T , CM000681.2:g.45363883G>T | GRCh38 |
| NC_000019.9:g.45867141G>T , CM000681.1:g.45867141G>T | GRCh37 |
| NC_000019.8:g.50558981G>T | NCBI36 |
| NG_007067.2:g.11705C>A , LRG_461:g.11705C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.978C>A | ENSP00000375808.4:p.Ala326= | |
| ENST00000682414.1:c.978C>A | ENSP00000507019.1:p.Ala326= | |
| ENST00000682508.1:n.1007C>A | ||
| ENST00000684218.1:c.*236C>A | ENSP00000507804.1:n.*236C>A | |
| ENST00000684407.1:c.855C>A | ENSP00000507775.1:p.Ala285= | |
| ENST00000684458.1:c.978C>A | ENSP00000508260.1:p.Ala326= | |
| ENST00000391945.10:c.978C>A MANE Select | ENSP00000375809.4:p.Ala326= | |
| ENST00000587376.6:c.101C>A | ||
| ENST00000646507.1:n.1075C>A | ||
| ENST00000391941.6:c.906C>A | ENSP00000375805.2:p.Ala302= | |
| ENST00000391944.7:c.744C>A | ENSP00000375808.3:p.Ala248= | |
| ENST00000391945.8:c.978C>A | ENSP00000375809.3:p.Ala326= | |
| ENST00000485403.6:c.906C>A | ENSP00000431229.2:p.Ala302= | |
| ENST00000587376.5:c.101C>A | ||
| NM_000400.3:c.978C>A , LRG_461t1:c.978C>A | NP_000391.1:p.Ala326= | |
| NM_001130867.1:c.906C>A | NP_001124339.1:p.Ala302= | |
| XM_011526611.1:c.900C>A | XP_011524913.1:p.Ala300= | |
| XR_935763.1:n.1025C>A | ||
| XM_011526611.2:c.900C>A | XP_011524913.1:p.Ala300= | |
| XM_017026467.1:c.855C>A | XP_016881956.1:p.Ala285= | |
| XR_001753633.2:n.1025C>A | ||
| XR_001753634.2:n.1025C>A | ||
| NM_000400.4:c.978C>A MANE Select | NP_000391.1:p.Ala326= | |
| NM_001130867.2:c.906C>A | NP_001124339.1:p.Ala302= |