Linked Data
ClinVar Variation Id:
136098
ClinVar RCV Id:
RCV000123295
RCV000572664
RCV000761174
RCV002483237
RCV002466439
RCV004530053
RCV003460874
dbSNP Id:
rs549907428
ExAC:
10:43606735 C / G
gnomAD v2:
10-43606735-C-G
gnomAD v3:
10-43111287-C-G
gnomAD v4:
10-43111287-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111287C>G , CM000672.2:g.43111287C>G | GRCh38 |
| NC_000010.10:g.43606735C>G , CM000672.1:g.43606735C>G | GRCh37 |
| NC_000010.9:g.42926741C>G | NCBI36 |
| NG_007489.1:g.39219C>G , LRG_518:g.39219C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.948C>G | ENSP00000480088.2:p.Asn316Lys | |
| ENST00000683007.1:n.918C>G | ||
| ENST00000683872.1:n.105C>G | ||
| ENST00000340058.6:c.1344C>G | ENSP00000344798.4:p.Asn448Lys | |
| ENST00000355710.8:c.1344C>G MANE Select | ENSP00000347942.3:p.Asn448Lys | |
| ENST00000671844.1:c.706C>G | ENSP00000500541.1:p.Leu236Val | |
| ENST00000672389.1:c.154C>G | ENSP00000500252.1:p.Leu52Val | |
| ENST00000340058.5:c.1344C>G | ENSP00000344798.4:p.Asn448Lys | |
| ENST00000355710.7:c.1344C>G | ENSP00000347942.3:p.Asn448Lys | |
| ENST00000498820.5:c.74-812C>G | ENSP00000419080.1:n.74-812C>G | |
| ENST00000615310.4:c.1289+55C>G | ENSP00000480088.1:n.1289+55C>G | |
| NM_020630.4:c.1344C>G , LRG_518t2:c.1344C>G | NP_065681.1:p.Asn448Lys | |
| NM_020975.4:c.1344C>G , LRG_518t1:c.1344C>G | NP_066124.1:p.Asn448Lys | |
| XM_011540027.1:c.1344C>G | XP_011538329.1:p.Asn448Lys | |
| NM_001355216.1:c.582C>G | NP_001342145.1:p.Asn194Lys | |
| NM_020630.5:c.1344C>G | NP_065681.1:p.Asn448Lys | |
| NM_020975.5:c.1344C>G | NP_066124.1:p.Asn448Lys | |
| NM_020975.6:c.1344C>G MANE Select | NP_066124.1:p.Asn448Lys | |
| NM_020630.6:c.1344C>G | NP_065681.1:p.Asn448Lys |