Linked Data
dbSNP Id:
rs1478486
gnomAD v2:
5-82377004-G-A
gnomAD v3:
5-83081185-G-A
gnomAD v4:
5-83081185-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83081185G>A , CM000667.2:g.83081185G>A | GRCh38 |
| NC_000005.9:g.82377004G>A , CM000667.1:g.82377004G>A | GRCh37 |
| NC_000005.8:g.82412760G>A | NCBI36 |
| NG_047086.1:g.8777G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396027.9:c.-11+3570G>A MANE Select | ENSP00000379344.4:n.-11+3570G>A | |
| ENST00000282268.7:c.-11+3523G>A | ENSP00000282268.3:n.-11+3523G>A | |
| ENST00000338635.10:c.-11+3570G>A | ENSP00000342011.6:n.-11+3570G>A | |
| ENST00000396027.8:c.-11+3570G>A | ENSP00000379344.4:n.-11+3570G>A | |
| ENST00000511817.1:c.-11+3523G>A | ENSP00000421491.1:n.-11+3523G>A | |
| ENST00000542685.5:n.59+3570G>A | ||
| NM_003401.3:c.-11+3570G>A | NP_003392.1:n.-11+3570G>A | |
| NM_022406.2:c.-11+3570G>A | NP_071801.1:n.-11+3570G>A | |
| NM_022550.2:c.-11+3523G>A | NP_072044.1:n.-11+3523G>A | |
| XM_005248595.1:c.-11+3523G>A | XP_005248652.1:n.-11+3523G>A | |
| XM_011543627.1:c.-11+3570G>A | XP_011541929.1:n.-11+3570G>A | |
| XM_011543628.1:c.-11+3570G>A | XP_011541930.1:n.-11+3570G>A | |
| NM_001318012.1:c.-11+3523G>A | NP_001304941.1:n.-11+3523G>A | |
| NM_001318013.1:c.-11+3570G>A | NP_001304942.1:n.-11+3570G>A | |
| NM_003401.4:c.-11+3570G>A | NP_003392.1:n.-11+3570G>A | |
| NM_022406.3:c.-11+3570G>A | NP_071801.1:n.-11+3570G>A | |
| NM_022550.3:c.-11+3523G>A | NP_072044.1:n.-11+3523G>A | |
| XM_017009827.2:c.-11+3570G>A | XP_016865316.1:n.-11+3570G>A | |
| XM_017009828.2:c.-11+3570G>A | XP_016865317.1:n.-11+3570G>A | |
| XM_017009829.2:c.-11+3570G>A | XP_016865318.1:n.-11+3570G>A | |
| NM_001318012.2:c.-11+3523G>A | NP_001304941.1:n.-11+3523G>A | |
| NM_001318013.2:c.-11+3570G>A | NP_001304942.1:n.-11+3570G>A | |
| NM_003401.5:c.-11+3570G>A MANE Select | NP_003392.1:n.-11+3570G>A | |
| NM_022406.4:c.-11+3570G>A | NP_071801.1:n.-11+3570G>A | |
| NM_001318012.3:c.-11+3523G>A | NP_001304941.1:n.-11+3523G>A | |
| NM_022406.5:c.-11+3570G>A | NP_071801.1:n.-11+3570G>A | |
| NM_022550.4:c.-11+3523G>A | NP_072044.1:n.-11+3523G>A |