Linked Data
ClinVar Variation Id:
1517674
ClinVar RCV Id:
RCV002027530
dbSNP Id:
rs1596378879
gnomAD v4:
5-141573827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141573827T>C , CM000667.2:g.141573827T>C | GRCh38 |
| NC_000005.9:g.140953394T>C , CM000667.1:g.140953394T>C | GRCh37 |
| NC_000005.8:g.140933578T>C | NCBI36 |
| NG_011594.1:g.50229A>G | |
| NG_011594.2:g.50229A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.2023A>G MANE Select | ENSP00000373706.4:p.Ile675Val | |
| ENST00000647433.1:c.2023A>G | ENSP00000494675.1:p.Ile675Val | |
| ENST00000253811.10:c.1891A>G | ENSP00000253811.7:p.Ile631Val | |
| ENST00000389054.7:c.2023A>G | ENSP00000373706.4:p.Ile675Val | |
| ENST00000389057.9:c.1996A>G | ENSP00000373709.6:p.Ile666Val | |
| ENST00000398557.8:c.2023A>G | ENSP00000381565.5:p.Ile675Val | |
| ENST00000518047.5:c.1996A>G | ENSP00000428268.2:p.Ile666Val | |
| NM_001079812.2:c.1996A>G | NP_001073280.1:p.Ile666Val | |
| NM_001314007.1:c.2023A>G | NP_001300936.1:p.Ile675Val | |
| NM_005219.4:c.2023A>G | NP_005210.3:p.Ile675Val | |
| XM_011537572.1:c.1987A>G | XP_011535874.1:p.Ile663Val | |
| XM_011537573.1:c.1957A>G | XP_011535875.1:p.Ile653Val | |
| XM_024454384.1:c.2023A>G | XP_024310152.1:p.Ile675Val | |
| XM_024454385.1:c.1996A>G | XP_024310153.1:p.Ile666Val | |
| XM_024454386.1:c.1987A>G | XP_024310154.1:p.Ile663Val | |
| XM_024454387.1:c.1957A>G | XP_024310155.1:p.Ile653Val | |
| NM_005219.5:c.2023A>G MANE Select | NP_005210.3:p.Ile675Val | |
| NM_001079812.3:c.1996A>G | NP_001073280.1:p.Ile666Val | |
| NM_001314007.2:c.2023A>G | NP_001300936.1:p.Ile675Val |