Linked Data
dbSNP Id:
rs11724903
gnomAD v2:
4-183200145-A-G
gnomAD v3:
4-182278992-A-G
gnomAD v4:
4-182278992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.182278992A>G , CM000666.2:g.182278992A>G | GRCh38 |
| NC_000004.11:g.183200145A>G , CM000666.1:g.183200145A>G | GRCh37 |
| NC_000004.10:g.183437139A>G | NCBI36 |
| NG_042859.1:g.40562A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000511685.6:c.-76+35516A>G MANE Select | ENSP00000424226.1:n.-76+35516A>G | |
| ENST00000511685.5:c.-76+35516A>G | ENSP00000424226.1:n.-76+35516A>G | |
| ENST00000512480.5:c.-75-44954A>G | ENSP00000421320.1:n.-75-44954A>G | |
| ENST00000513201.1:n.176-44954A>G | ||
| NM_001080477.3:c.-76+35516A>G | NP_001073946.1:n.-76+35516A>G | |
| XM_017008385.1:c.-75-44954A>G | XP_016863874.1:n.-75-44954A>G | |
| XM_017008386.1:c.-75-44954A>G | XP_016863875.1:n.-75-44954A>G | |
| XM_017008387.2:c.-75-44954A>G | XP_016863876.1:n.-75-44954A>G | |
| XM_017008389.1:c.-75-44954A>G | XP_016863878.1:n.-75-44954A>G | |
| XM_017008390.1:c.-75-44954A>G | XP_016863879.1:n.-75-44954A>G | |
| XM_017008391.1:c.-75-44954A>G | XP_016863880.1:n.-75-44954A>G | |
| XM_017008392.1:c.-75-44954A>G | XP_016863881.1:n.-75-44954A>G | |
| XM_017008393.1:c.-75-44954A>G | XP_016863882.1:n.-75-44954A>G | |
| XM_017008394.1:c.-75-44954A>G | XP_016863883.1:n.-75-44954A>G | |
| NM_001080477.4:c.-76+35516A>G MANE Select | NP_001073946.1:n.-76+35516A>G |