Linked Data
ClinVar Variation Id:
40333
ClinVar RCV Id:
RCV000033265
RCV000283347
RCV000380281
RCV000590400
RCV001813215
RCV002345261
RCV003944862
dbSNP Id:
rs397507454
ExAC:
7:140624468 C / T
gnomAD v2:
7-140624468-C-T
gnomAD v3:
7-140924668-C-T
gnomAD v4:
7-140924668-C-T
ERepo:
CA281921/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140924668C>T , CM000669.2:g.140924668C>T | GRCh38 |
| NC_000007.13:g.140624468C>T , CM000669.1:g.140624468C>T | GRCh37 |
| NC_000007.12:g.140270937C>T | NCBI36 |
| NG_007873.3:g.5097G>A , LRG_299:g.5097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.36G>A MANE Select | ENSP00000493543.1:p.Ala12= | |
| ENST00000288602.11:c.36G>A | ENSP00000288602.7:p.Ala12= | |
| ENST00000469930.2:c.36G>A | ENSP00000495858.1:p.Ala12= | |
| ENST00000496384.7:c.36G>A | ENSP00000419060.2:p.Ala12= | |
| ENST00000497784.2:c.36G>A | ENSP00000420119.2:p.Ala12= | |
| ENST00000642228.1:c.36G>A | ENSP00000493678.1:p.Ala12= | |
| ENST00000642272.1:n.59G>A | ||
| ENST00000642808.1:n.36G>A | ||
| ENST00000643790.1:n.39G>A | ||
| ENST00000644905.1:n.45G>A | ||
| ENST00000644969.2:c.36G>A MANE Plus Clinical | ENSP00000496776.1:p.Ala12= | |
| ENST00000646730.1:c.36G>A | ENSP00000494784.1:p.Ala12= | |
| ENST00000646891.1:c.36G>A | ENSP00000493543.1:p.Ala12= | |
| ENST00000288602.10:c.36G>A | ENSP00000288602.6:p.Ala12= | |
| ENST00000469930.1:n.42G>A | ||
| NM_004333.4:c.36G>A , LRG_299t1:c.36G>A | NP_004324.2:p.Ala12= | |
| XM_005250045.1:c.36G>A | XP_005250102.1:p.Ala12= | |
| XM_005250046.1:c.36G>A | XP_005250103.1:p.Ala12= | |
| XM_011516529.1:c.36G>A | XP_011514831.1:p.Ala12= | |
| XM_011516530.1:c.36G>A | XP_011514832.1:p.Ala12= | |
| XR_242190.1:n.44G>A | ||
| XR_927520.1:n.44G>A | ||
| XR_927521.1:n.44G>A | ||
| XR_927522.1:n.44G>A | ||
| XR_927523.1:n.44G>A | ||
| NM_001354609.1:c.36G>A | NP_001341538.1:p.Ala12= | |
| NM_004333.5:c.36G>A | NP_004324.2:p.Ala12= | |
| NR_148928.1:n.261G>A | ||
| XM_017012558.1:c.36G>A | XP_016868047.1:p.Ala12= | |
| XM_017012559.1:c.36G>A | XP_016868048.1:p.Ala12= | |
| XR_001744857.1:n.44G>A | ||
| XR_001744858.1:n.44G>A | ||
| NM_001354609.2:c.36G>A | NP_001341538.1:p.Ala12= | |
| NM_001374244.1:c.36G>A | NP_001361173.1:p.Ala12= | |
| NM_001374258.1:c.36G>A MANE Plus Clinical | NP_001361187.1:p.Ala12= | |
| NM_004333.6:c.36G>A MANE Select | NP_004324.2:p.Ala12= | |
| NM_001378467.1:c.36G>A | NP_001365396.1:p.Ala12= | |
| NM_001378468.1:c.36G>A | NP_001365397.1:p.Ala12= | |
| NM_001378469.1:c.36G>A | NP_001365398.1:p.Ala12= | |
| NM_001378470.1:c.36G>A | NP_001365399.1:p.Ala12= | |
| NM_001378471.1:c.36G>A | NP_001365400.1:p.Ala12= | |
| NM_001378474.1:c.36G>A | NP_001365403.1:p.Ala12= | |
| NM_001378475.1:c.36G>A | NP_001365404.1:p.Ala12= |