Linked Data
dbSNP Id:
rs1411040326
gnomAD v2:
4-42412546-A-C
gnomAD v3:
4-42410529-A-C
gnomAD v4:
4-42410529-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42410529A>C , CM000666.2:g.42410529A>C | GRCh38 |
| NC_000004.11:g.42412546A>C , CM000666.1:g.42412546A>C | GRCh37 |
| NC_000004.10:g.42107303A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700470.1:c.*2387T>G | ENSP00000515003.1:n.*2387T>G | |
| ENST00000264449.14:c.*2387T>G | ENSP00000264449.10:n.*2387T>G | |
| ENST00000381668.9:c.*2387T>G MANE Select | ENSP00000371084.5:n.*2387T>G | |
| ENST00000514372.5:c.3762T>G | ENSP00000426495.1:n.3762T>G | |
| NM_001105529.1:c.*2387T>G | NP_001098999.1:n.*2387T>G | |
| NM_006095.2:c.*2387T>G MANE Select | NP_006086.1:n.*2387T>G | |
| XM_005248043.2:c.*2387T>G | XP_005248100.1:n.*2387T>G | |
| XM_011513615.1:c.*2387T>G | XP_011511917.1:n.*2387T>G | |
| XM_011513616.1:c.*2387T>G | XP_011511918.1:n.*2387T>G | |
| XM_011513618.1:c.*2387T>G | XP_011511920.1:n.*2387T>G | |
| XM_011513619.1:c.*2387T>G | XP_011511921.1:n.*2387T>G | |
| XR_925118.1:n.5936T>G | ||
| XM_005248043.3:c.*2387T>G | XP_005248100.1:n.*2387T>G | |
| XM_011513615.2:c.*2387T>G | XP_011511917.1:n.*2387T>G | |
| XM_011513616.3:c.*2387T>G | XP_011511918.1:n.*2387T>G | |
| XM_011513618.2:c.*2387T>G | XP_011511920.1:n.*2387T>G | |
| XM_017007645.2:c.*2387T>G | XP_016863134.1:n.*2387T>G | |
| XM_017007646.1:c.*2387T>G | XP_016863135.1:n.*2387T>G | |
| XM_017007647.1:c.*2387T>G | XP_016863136.1:n.*2387T>G | |
| XR_001741094.2:n.5955T>G | ||
| XR_925117.3:n.6149T>G | ||
| XR_925118.2:n.5941T>G | ||
| NM_001400024.1:c.*2387T>G | NP_001386953.1:n.*2387T>G | |
| NM_001400025.1:c.*2387T>G | NP_001386954.1:n.*2387T>G | |
| NM_001400026.1:c.*2387T>G | NP_001386955.1:n.*2387T>G | |
| NM_001400027.1:c.*2387T>G | NP_001386956.1:n.*2387T>G |