Linked Data
ClinVar Variation Id:
2488461
dbSNP Id:
rs1033357973
gnomAD v2:
3-123411588-C-T
gnomAD v3:
3-123692741-C-T
gnomAD v4:
3-123692741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123692741C>T , CM000665.2:g.123692741C>T | GRCh38 |
| NC_000003.11:g.123411588C>T , CM000665.1:g.123411588C>T | GRCh37 |
| NC_000003.10:g.124894278C>T | NCBI36 |
| NG_029111.1:g.196562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.3352G>A | ENSP00000320622.6:p.Val1118Met | |
| ENST00000504946.6:c.1169G>A | ||
| ENST00000684879.1:n.1191G>A | ||
| ENST00000685021.1:c.793G>A | ENSP00000508447.1:p.Val265Met | |
| ENST00000685259.1:c.1097G>A | ||
| ENST00000685907.1:n.1340G>A | ||
| ENST00000686039.1:c.1097G>A | ||
| ENST00000686245.1:c.682+7279G>A | ENSP00000509313.1:n.682+7279G>A | |
| ENST00000686406.1:c.3559G>A | ENSP00000509044.1:p.Val1187Met | |
| ENST00000686761.1:c.3559G>A | ENSP00000508758.1:p.Val1187Met | |
| ENST00000686822.1:n.3453G>A | ||
| ENST00000687709.1:n.824G>A | ||
| ENST00000687848.1:c.3589G>A | ENSP00000508761.1:p.Val1197Met | |
| ENST00000688024.1:c.793G>A | ENSP00000509803.1:p.Val265Met | |
| ENST00000688223.1:c.793G>A | ENSP00000508935.1:p.Val265Met | |
| ENST00000689227.1:c.1232G>A | ||
| ENST00000689868.1:n.1287G>A | ||
| ENST00000690167.1:n.1230G>A | ||
| ENST00000690457.1:c.2797G>A | ENSP00000508777.1:p.Val933Met | |
| ENST00000691933.1:c.1097G>A | ||
| ENST00000692352.1:c.1097G>A | ||
| ENST00000693689.1:c.3352G>A | ENSP00000510503.1:p.Val1118Met | |
| ENST00000360304.8:c.3559G>A MANE Select | ENSP00000353452.3:p.Val1187Met | |
| ENST00000346322.9:c.3352G>A | ENSP00000320622.5:p.Val1118Met | |
| ENST00000354792.9:c.3352G>A | ENSP00000346846.6:p.Val1118Met | |
| ENST00000359169.5:c.3559G>A | ENSP00000352088.1:p.Val1187Met | |
| ENST00000360304.7:c.3559G>A | ENSP00000353452.3:p.Val1187Met | |
| ENST00000360772.7:c.3559G>A | ENSP00000354004.3:p.Val1187Met | |
| ENST00000464489.5:c.*3138G>A | ENSP00000417798.1:n.*3138G>A | |
| ENST00000475616.5:c.3559G>A | ENSP00000418335.1:p.Val1187Met | |
| ENST00000503644.1:n.228G>A | ||
| ENST00000504946.5:n.1117G>A | ||
| ENST00000510775.5:n.277G>A | ||
| NM_053025.3:c.3559G>A | NP_444253.3:p.Val1187Met | |
| NM_053026.3:c.3352G>A | NP_444254.3:p.Val1118Met | |
| NM_053027.3:c.3559G>A | NP_444255.3:p.Val1187Met | |
| NM_053028.3:c.3352G>A | NP_444256.3:p.Val1118Met | |
| XM_011512860.1:c.3559G>A | XP_011511162.1:p.Val1187Met | |
| XM_011512861.1:c.3559G>A | XP_011511163.1:p.Val1187Met | |
| XM_011512862.1:c.3031G>A | XP_011511164.1:p.Val1011Met | |
| NM_001321309.1:c.3031G>A | NP_001308238.1:p.Val1011Met | |
| XM_011512860.3:c.3589G>A | XP_011511162.2:p.Val1197Met | |
| XM_011512861.3:c.3589G>A | XP_011511163.2:p.Val1197Met | |
| XM_017006469.2:c.793G>A | XP_016861958.1:p.Val265Met | |
| XM_024453532.1:c.3589G>A | XP_024309300.1:p.Val1197Met | |
| XM_024453533.1:c.3559G>A | XP_024309301.1:p.Val1187Met | |
| XM_024453534.1:c.3382G>A | XP_024309302.1:p.Val1128Met | |
| XM_024453535.1:c.3352G>A | XP_024309303.1:p.Val1118Met | |
| XM_024453536.1:c.3559G>A | XP_024309304.1:p.Val1187Met | |
| XM_024453537.1:c.3559G>A | XP_024309305.1:p.Val1187Met | |
| NM_001321309.2:c.3031G>A | NP_001308238.1:p.Val1011Met | |
| NM_053025.4:c.3559G>A MANE Select | NP_444253.3:p.Val1187Met | |
| NM_053026.4:c.3352G>A | NP_444254.3:p.Val1118Met | |
| NM_053027.4:c.3559G>A | NP_444255.3:p.Val1187Met | |
| NM_053028.4:c.3352G>A | NP_444256.3:p.Val1118Met |