Linked Data
dbSNP Id:
rs1457916779
gnomAD v2:
5-140894713-T-C
gnomAD v3:
5-141515146-T-C
gnomAD v4:
5-141515146-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141515146T>C , CM000667.2:g.141515146T>C | GRCh38 |
| NC_000005.9:g.140894713T>C , CM000667.1:g.140894713T>C | GRCh37 |
| NC_000005.8:g.140874897T>C | NCBI36 |
| NG_011594.1:g.108910A>G | |
| NG_011594.2:g.108910A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.*1705A>G MANE Select | ENSP00000373706.4:n.*1705A>G | |
| ENST00000448451.6:c.*1705A>G | ENSP00000408159.2:n.*1705A>G | |
| ENST00000643718.1:n.2155A>G | ||
| ENST00000647433.1:c.*1824A>G | ENSP00000494675.1:n.*1824A>G | |
| ENST00000253811.10:c.*1705A>G | ENSP00000253811.7:n.*1705A>G | |
| ENST00000389054.7:c.*1705A>G | ENSP00000373706.4:n.*1705A>G | |
| ENST00000389057.9:c.*1705A>G | ENSP00000373709.6:n.*1705A>G | |
| ENST00000398557.8:c.*1705A>G | ENSP00000381565.5:n.*1705A>G | |
| ENST00000476339.1:n.2476A>G | ||
| NM_001079812.2:c.*1705A>G | NP_001073280.1:n.*1705A>G | |
| NM_001314007.1:c.*1824A>G | NP_001300936.1:n.*1824A>G | |
| NM_005219.4:c.*1705A>G | NP_005210.3:n.*1705A>G | |
| XM_011537572.1:c.*1705A>G | XP_011535874.1:n.*1705A>G | |
| XM_011537573.1:c.*1705A>G | XP_011535875.1:n.*1705A>G | |
| XM_024454384.1:c.*1705A>G | XP_024310152.1:n.*1705A>G | |
| XM_024454385.1:c.*1705A>G | XP_024310153.1:n.*1705A>G | |
| XM_024454386.1:c.*1705A>G | XP_024310154.1:n.*1705A>G | |
| XM_024454387.1:c.*1705A>G | XP_024310155.1:n.*1705A>G | |
| NM_005219.5:c.*1705A>G MANE Select | NP_005210.3:n.*1705A>G | |
| NM_001079812.3:c.*1705A>G | NP_001073280.1:n.*1705A>G | |
| NM_001314007.2:c.*1824A>G | NP_001300936.1:n.*1824A>G |