Linked Data
dbSNP Id:
rs723524
gnomAD v2:
2-80581801-G-T
gnomAD v3:
2-80354676-G-T
gnomAD v4:
2-80354676-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.80354676G>T , CM000664.2:g.80354676G>T | GRCh38 |
| NC_000002.11:g.80581801G>T , CM000664.1:g.80581801G>T | GRCh37 |
| NC_000002.10:g.80435312G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402739.9:c.1057-38535G>T MANE Select | ENSP00000384638.4:n.1057-38535G>T | |
| ENST00000343114.7:c.94-38535G>T | ENSP00000341500.3:n.94-38535G>T | |
| ENST00000361291.8:c.-96-38535G>T | ENSP00000355398.5:n.-96-38535G>T | |
| ENST00000402739.8:c.1057-38535G>T | ENSP00000384638.4:n.1057-38535G>T | |
| ENST00000409550.2:c.51+26327G>T | ENSP00000386587.1:n.51+26327G>T | |
| ENST00000466387.5:c.1057-38535G>T | ENSP00000418191.1:n.1057-38535G>T | |
| ENST00000493024.5:n.207-38535G>T | ||
| ENST00000496558.5:c.1057-38535G>T | ENSP00000419295.1:n.1057-38535G>T | |
| ENST00000540488.5:c.-96-38535G>T | ENSP00000441705.2:n.-96-38535G>T | |
| ENST00000541047.5:c.-48-38535G>T | ENSP00000444675.2:n.-48-38535G>T | |
| ENST00000629316.2:c.1057-38535G>T | ENSP00000486160.1:n.1057-38535G>T | |
| NM_001164883.1:c.1057-38535G>T | NP_001158355.1:n.1057-38535G>T | |
| NM_001282597.2:c.1057-38535G>T | NP_001269526.1:n.1057-38535G>T | |
| NM_001282598.1:c.1159-38535G>T | NP_001269527.1:n.1159-38535G>T | |
| NM_001282599.1:c.94-38535G>T | NP_001269528.1:n.94-38535G>T | |
| NM_001282600.1:c.-48-38535G>T | NP_001269529.1:n.-48-38535G>T | |
| NM_004389.3:c.1057-38535G>T | NP_004380.2:n.1057-38535G>T | |
| XM_006711949.2:c.-48-38535G>T | XP_006712012.1:n.-48-38535G>T | |
| XM_011532555.1:c.1057-38535G>T | XP_011530857.1:n.1057-38535G>T | |
| XM_011532556.1:c.1057-38535G>T | XP_011530858.1:n.1057-38535G>T | |
| XR_940286.1:n.134+7745C>A | ||
| NM_001320810.1:c.-48-38535G>T | NP_001307739.1:n.-48-38535G>T | |
| XM_011532555.2:c.1057-38535G>T | XP_011530857.1:n.1057-38535G>T | |
| XM_011532556.2:c.1057-38535G>T | XP_011530858.1:n.1057-38535G>T | |
| XM_017003403.2:c.1057-38535G>T | XP_016858892.1:n.1057-38535G>T | |
| XM_017003404.2:c.1057-38535G>T | XP_016858893.1:n.1057-38535G>T | |
| XM_017003405.2:c.1057-38535G>T | XP_016858894.1:n.1057-38535G>T | |
| XM_017003406.2:c.-48-38535G>T | XP_016858895.1:n.-48-38535G>T | |
| XM_024452714.1:c.1057-38535G>T | XP_024308482.1:n.1057-38535G>T | |
| XM_024452715.1:c.1057-38535G>T | XP_024308483.1:n.1057-38535G>T | |
| XM_024452716.1:c.1057-38535G>T | XP_024308484.1:n.1057-38535G>T | |
| XR_940286.2:n.200+7745C>A | ||
| NM_001164883.2:c.1057-38535G>T | NP_001158355.1:n.1057-38535G>T | |
| NM_001282597.3:c.1057-38535G>T MANE Select | NP_001269526.1:n.1057-38535G>T | |
| NM_001282598.2:c.1159-38535G>T | NP_001269527.1:n.1159-38535G>T | |
| NM_001282599.2:c.94-38535G>T | NP_001269528.1:n.94-38535G>T | |
| NM_001282600.2:c.-48-38535G>T | NP_001269529.1:n.-48-38535G>T | |
| NM_001320810.2:c.-48-38535G>T | NP_001307739.1:n.-48-38535G>T | |
| NM_004389.4:c.1057-38535G>T | NP_004380.2:n.1057-38535G>T | |
| NM_001399737.1:c.1057-38535G>T | NP_001386666.1:n.1057-38535G>T |