Linked Data
dbSNP Id:
rs1158736103
gnomAD v2:
2-42981168-A-G
gnomAD v3:
2-42754028-A-G
gnomAD v4:
2-42754028-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42754028A>G , CM000664.2:g.42754028A>G | GRCh38 |
| NC_000002.11:g.42981168A>G , CM000664.1:g.42981168A>G | GRCh37 |
| NC_000002.10:g.42834672A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405094.2:c.*629A>G MANE Select | ENSP00000385823.1:n.*629A>G | |
| ENST00000405592.5:c.*629A>G | ENSP00000383973.1:n.*629A>G | |
| ENST00000406652.5:c.*629A>G | ENSP00000384249.1:n.*629A>G | |
| ENST00000409019.5:c.*712A>G | ENSP00000386763.1:n.*712A>G | |
| NM_001282755.1:c.*629A>G | NP_001269684.1:n.*629A>G | |
| NM_001282756.1:c.*629A>G | NP_001269685.1:n.*629A>G | |
| XM_005264456.2:c.*629A>G | XP_005264513.1:n.*629A>G | |
| XM_005264458.2:c.*629A>G | XP_005264515.1:n.*629A>G | |
| XM_005264459.2:c.*629A>G | XP_005264516.1:n.*629A>G | |
| XM_011533006.1:c.*629A>G | XP_011531308.1:n.*629A>G | |
| XR_939697.1:n.1791-29887A>G | ||
| XR_939698.1:n.2445A>G | ||
| NM_001330442.1:c.*629A>G | NP_001317371.1:n.*629A>G | |
| NM_001330443.1:c.*629A>G | NP_001317372.1:n.*629A>G | |
| NM_001330444.1:c.*629A>G | NP_001317373.1:n.*629A>G | |
| XM_024453019.1:c.*629A>G | XP_024308787.1:n.*629A>G | |
| XR_001738859.2:n.1794-29887A>G | ||
| XR_001738860.2:n.2445A>G | ||
| XR_939697.3:n.1794-29887A>G | ||
| NM_001330442.2:c.*629A>G MANE Select | NP_001317371.1:n.*629A>G | |
| NM_001330443.2:c.*629A>G | NP_001317372.1:n.*629A>G | |
| NM_001330444.2:c.*629A>G | NP_001317373.1:n.*629A>G | |
| NM_001282755.2:c.*629A>G | NP_001269684.1:n.*629A>G | |
| NM_001282756.2:c.*629A>G | NP_001269685.1:n.*629A>G |