Linked Data
ClinVar Variation Id:
12198
ClinVar RCV Id:
RCV000012982
RCV000645321
RCV000845477
RCV000994445
RCV003149568
RCV000617420
RCV000768535
RCV002496333
RCV002298443
dbSNP Id:
rs71579353
ExAC:
10:75842257 C / A
gnomAD v2:
10-75842257-C-A
gnomAD v3:
10-74082499-C-A
gnomAD v4:
10-74082499-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74082499C>A , CM000672.2:g.74082499C>A | GRCh38 |
| NC_000010.10:g.75842257C>A , CM000672.1:g.75842257C>A | GRCh37 |
| NC_000010.9:g.75512263C>A | NCBI36 |
| NG_008868.1:g.89386C>A , LRG_383:g.89386C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.829C>A MANE Select | ENSP00000211998.5:p.Leu277Met | |
| ENST00000211998.8:c.829C>A | ENSP00000211998.4:p.Leu277Met | |
| ENST00000372755.7:c.829C>A | ENSP00000361841.3:p.Leu277Met | |
| ENST00000478896.2:n.332-18555C>A | ||
| ENST00000623461.3:n.3632C>A | ||
| ENST00000624354.3:c.*584C>A | ENSP00000485551.1:n.*584C>A | |
| NM_003373.3:c.829C>A | NP_003364.1:p.Leu277Met | |
| NM_014000.2:c.829C>A , LRG_383t1:c.829C>A | NP_054706.1:p.Leu277Met | |
| XM_005270142.1:c.832C>A | XP_005270199.1:p.Leu278Met | |
| XM_005270143.1:c.832C>A | XP_005270200.1:p.Leu278Met | |
| XR_001747501.1:n.90-4772G>T | ||
| NM_003373.4:c.829C>A | NP_003364.1:p.Leu277Met | |
| NM_014000.3:c.829C>A MANE Select | NP_054706.1:p.Leu277Met |