Linked Data
ClinVar Variation Id:
1935
ClinVar RCV Id:
RCV000002012
dbSNP Id:
rs119103218
gnomAD v4:
3-183037432-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037432A>C , CM000665.2:g.183037432A>C | GRCh38 |
| NC_000003.11:g.182755220A>C , CM000665.1:g.182755220A>C | GRCh37 |
| NC_000003.10:g.184237914A>C | NCBI36 |
| NG_008100.1:g.67146T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1380T>G MANE Select | ENSP00000265594.4:p.Ile460Met | |
| ENST00000265594.8:c.1380T>G | ENSP00000265594.4:p.Ile460Met | |
| ENST00000476176.5:c.1239T>G | ENSP00000420433.1:p.Ile413Met | |
| ENST00000492597.5:c.1053T>G | ENSP00000419898.1:p.Ile351Met | |
| ENST00000495767.5:c.*961T>G | ENSP00000419658.1:n.*961T>G | |
| ENST00000497830.5:c.*977T>G | ENSP00000420088.1:n.*977T>G | |
| ENST00000497959.5:c.1263+1594T>G | ENSP00000420648.1:n.1263+1594T>G | |
| ENST00000539926.5:c.930T>G | ENSP00000441253.2:p.Ile310Met | |
| ENST00000610757.4:c.930T>G | ENSP00000480435.1:p.Ile310Met | |
| ENST00000629669.2:c.1263+1594T>G | ENSP00000486824.1:n.1263+1594T>G | |
| NM_001293273.1:c.1029T>G | NP_001280202.1:p.Ile343Met | |
| NM_020166.4:c.1380T>G | NP_064551.3:p.Ile460Met | |
| NR_120639.1:n.1294T>G | ||
| NR_120640.1:n.2044+1594T>G | ||
| XM_006713702.1:c.1053T>G | XP_006713765.1:p.Ile351Met | |
| XM_011512992.1:c.1266T>G | XP_011511294.1:p.Ile422Met | |
| XM_011512993.1:c.1377+1594T>G | XP_011511295.1:n.1377+1594T>G | |
| XR_241502.2:n.1524+1594T>G | ||
| XR_924159.1:n.1527T>G | ||
| NM_001363880.1:c.1053T>G | NP_001350809.1:p.Ile351Met | |
| XM_011512992.2:c.1266T>G | XP_011511294.1:p.Ile422Met | |
| XR_001740207.2:n.1503T>G | ||
| XR_001740208.2:n.1503T>G | ||
| XR_001740209.2:n.1470+1594T>G | ||
| XR_001740210.1:n.1333T>G | ||
| XR_002959553.1:n.1503T>G | ||
| XR_002959554.1:n.1500+1594T>G | ||
| XR_241502.3:n.1470+1594T>G | ||
| NM_020166.5:c.1380T>G MANE Select | NP_064551.3:p.Ile460Met | |
| NM_001293273.2:c.1029T>G | NP_001280202.1:p.Ile343Met | |
| NR_120639.2:n.1203T>G | ||
| NR_120640.2:n.2044+1594T>G |