Linked Data
dbSNP Id:
rs2652106
gnomAD v2:
5-82794036-G-T
gnomAD v3:
5-83498217-G-T
gnomAD v4:
5-83498217-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83498217G>T , CM000667.2:g.83498217G>T | GRCh38 |
| NC_000005.9:g.82794036G>T , CM000667.1:g.82794036G>T | GRCh37 |
| NC_000005.8:g.82829792G>T | NCBI36 |
| NG_012682.1:g.31507G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265077.8:c.748+4286G>T MANE Select | ENSP00000265077.3:n.748+4286G>T | |
| ENST00000265077.7:c.748+4286G>T | ENSP00000265077.3:n.748+4286G>T | |
| ENST00000342785.8:c.748+4286G>T | ENSP00000342768.4:n.748+4286G>T | |
| ENST00000343200.9:c.748+4286G>T | ENSP00000340062.5:n.748+4286G>T | |
| ENST00000502527.2:c.748+4286G>T | ENSP00000421362.2:n.748+4286G>T | |
| ENST00000512590.6:c.604+4286G>T | ENSP00000425959.2:n.604+4286G>T | |
| ENST00000513960.5:c.748+4286G>T | ENSP00000426251.1:n.748+4286G>T | |
| ENST00000513984.5:c.748+4286G>T | ENSP00000426715.1:n.748+4286G>T | |
| NM_001126336.2:c.748+4286G>T | NP_001119808.1:n.748+4286G>T | |
| NM_001164097.1:c.748+4286G>T | NP_001157569.1:n.748+4286G>T | |
| NM_001164098.1:c.748+4286G>T | NP_001157570.1:n.748+4286G>T | |
| NM_004385.4:c.748+4286G>T | NP_004376.2:n.748+4286G>T | |
| NM_004385.5:c.748+4286G>T MANE Select | NP_004376.2:n.748+4286G>T | |
| NM_001126336.3:c.748+4286G>T | NP_001119808.1:n.748+4286G>T | |
| NM_001164097.2:c.748+4286G>T | NP_001157569.1:n.748+4286G>T | |
| NM_001164098.2:c.748+4286G>T | NP_001157570.1:n.748+4286G>T |