Linked Data
ClinVar Variation Id:
2882906
ClinVar RCV Id:
RCV003721751
dbSNP Id:
rs755641671
ExAC:
12:45796859 C / A
gnomAD v2:
12-45796859-C-A
gnomAD v4:
12-45403076-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45403076C>A , CM000674.2:g.45403076C>A | GRCh38 |
| NC_000012.11:g.45796859C>A , CM000674.1:g.45796859C>A | GRCh37 |
| NC_000012.10:g.44083126C>A | NCBI36 |
| NG_028220.1:g.192090C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.1617C>A MANE Select | ENSP00000320087.8:p.Leu539= | |
| ENST00000679426.1:c.1584C>A | ENSP00000506600.1:p.Leu528= | |
| ENST00000679761.1:c.1617C>A | ENSP00000505361.1:p.Leu539= | |
| ENST00000680201.1:c.1617C>A | ENSP00000506222.1:p.Leu539= | |
| ENST00000680371.1:c.1617C>A | ENSP00000506392.1:p.Leu539= | |
| ENST00000680498.1:c.1200C>A | ENSP00000506613.1:p.Leu400= | |
| ENST00000681156.1:c.1617C>A | ENSP00000506069.1:p.Leu539= | |
| ENST00000681817.1:c.1200C>A | ENSP00000506683.1:p.Leu400= | |
| ENST00000320560.12:c.1617C>A | ENSP00000320087.8:p.Leu539= | |
| ENST00000423947.7:c.1680C>A | ENSP00000409126.3:p.Leu560= | |
| ENST00000425752.6:c.1617C>A | ENSP00000391417.2:p.Leu539= | |
| ENST00000426898.2:n.2033C>A | ||
| ENST00000441606.2:c.1563C>A | ENSP00000413137.2:p.Leu521= | |
| NM_001025356.2:c.1617C>A | NP_001020527.2:p.Leu539= | |
| NM_001142678.1:c.1563C>A | NP_001136150.1:p.Leu521= | |
| NM_001142679.1:c.1617C>A | NP_001136151.1:p.Leu539= | |
| NM_001204803.1:c.1680C>A | NP_001191732.1:p.Leu560= | |
| XM_005268706.3:c.1584C>A | XP_005268763.1:p.Leu528= | |
| XM_005268707.2:c.1518C>A | XP_005268764.1:p.Leu506= | |
| XM_011538024.1:c.1680C>A | XP_011536326.1:p.Leu560= | |
| XR_944886.1:n.1352-4852G>T | ||
| XR_944888.1:n.1352-4852G>T | ||
| XM_005268706.5:c.1584C>A | XP_005268763.1:p.Leu528= | |
| XM_005268707.4:c.1518C>A | XP_005268764.1:p.Leu506= | |
| XR_001749096.1:n.1353-4852G>T | ||
| XR_944886.2:n.1353-4852G>T | ||
| NM_001025356.3:c.1617C>A MANE Select | NP_001020527.2:p.Leu539= | |
| NM_001142678.2:c.1563C>A | NP_001136150.1:p.Leu521= | |
| NM_001142679.2:c.1617C>A | NP_001136151.1:p.Leu539= | |
| NM_001204803.2:c.1680C>A | NP_001191732.1:p.Leu560= |