Linked Data
ClinVar Variation Id:
24955
ClinVar RCV Id:
RCV000204335
RCV000566408
RCV000755693
RCV000662415
RCV001354419
RCV001818176
RCV004532395
RCV003466870
dbSNP Id:
rs377767426
ExAC:
10:43615142 C / G
gnomAD v2:
10-43615142-C-G
gnomAD v3:
10-43119694-C-G
gnomAD v4:
10-43119694-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119694C>G , CM000672.2:g.43119694C>G | GRCh38 |
| NC_000010.10:g.43615142C>G , CM000672.1:g.43615142C>G | GRCh37 |
| NC_000010.9:g.42935148C>G | NCBI36 |
| NG_007489.1:g.47626C>G , LRG_518:g.47626C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2160C>G | ENSP00000480088.2:p.Ile720Met | |
| ENST00000683007.1:n.2130C>G | ||
| ENST00000683872.1:n.2121C>G | ||
| ENST00000340058.6:c.2556C>G | ENSP00000344798.4:p.Ile852Met | |
| ENST00000355710.8:c.2556C>G MANE Select | ENSP00000347942.3:p.Ile852Met | |
| ENST00000671844.1:c.*1150C>G | ENSP00000500541.1:n.*1150C>G | |
| ENST00000672389.1:c.*1150C>G | ENSP00000500252.1:n.*1150C>G | |
| ENST00000340058.5:c.2556C>G | ENSP00000344798.4:p.Ile852Met | |
| ENST00000355710.7:c.2556C>G | ENSP00000347942.3:p.Ile852Met | |
| ENST00000615310.4:c.1290-8C>G | ENSP00000480088.1:n.1290-8C>G | |
| NM_020630.4:c.2556C>G , LRG_518t2:c.2556C>G | NP_065681.1:p.Ile852Met | |
| NM_020975.4:c.2556C>G , LRG_518t1:c.2556C>G | NP_066124.1:p.Ile852Met | |
| XM_011540027.1:c.2556C>G | XP_011538329.1:p.Ile852Met | |
| NM_001355216.1:c.1794C>G | NP_001342145.1:p.Ile598Met | |
| NM_020630.5:c.2556C>G | NP_065681.1:p.Ile852Met | |
| NM_020975.5:c.2556C>G | NP_066124.1:p.Ile852Met | |
| NM_020975.6:c.2556C>G MANE Select | NP_066124.1:p.Ile852Met | |
| NM_020630.6:c.2556C>G | NP_065681.1:p.Ile852Met |