Linked Data
dbSNP Id:
rs1007759971
gnomAD v2:
5-58337478-G-A
gnomAD v3:
5-59041651-G-A
gnomAD v4:
5-59041651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59041651G>A , CM000667.2:g.59041651G>A | GRCh38 |
| NC_000005.9:g.58337478G>A , CM000667.1:g.58337478G>A | GRCh37 |
| NC_000005.8:g.58373235G>A | NCBI36 |
| NG_027957.1:g.1451448C>T | |
| NG_027957.2:g.1487679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.617-2680C>T | ENSP00000424852.1:n.617-2680C>T | |
| ENST00000340635.11:c.809-2680C>T MANE Select | ENSP00000345502.6:n.809-2680C>T | |
| ENST00000636120.1:c.479-2680C>T | ENSP00000490821.1:n.479-2680C>T | |
| ENST00000309641.10:c.661-2680C>T | ENSP00000308485.6:n.661-2680C>T | |
| ENST00000340635.10:c.809-2680C>T | ENSP00000345502.6:n.809-2680C>T | |
| ENST00000360047.9:c.401-2680C>T | ENSP00000353152.5:n.401-2680C>T | |
| ENST00000405053.7:n.472-48186C>T | ||
| ENST00000405755.6:c.443-2680C>T | ENSP00000384806.2:n.443-2680C>T | |
| ENST00000502484.6:c.626-2680C>T | ENSP00000423094.2:n.626-2680C>T | |
| ENST00000503258.5:c.419-2680C>T | ENSP00000425605.1:n.419-2680C>T | |
| ENST00000505453.1:c.-98-2680C>T | ENSP00000421013.1:n.-98-2680C>T | |
| ENST00000507116.5:c.617-2680C>T | ENSP00000424852.1:n.617-2680C>T | |
| ENST00000546160.5:c.416-2680C>T | ENSP00000442734.2:n.416-2680C>T | |
| NM_001104631.1:c.809-2680C>T | NP_001098101.1:n.809-2680C>T | |
| NM_001165899.1:c.626-2680C>T | NP_001159371.1:n.626-2680C>T | |
| NM_001197218.1:c.617-2680C>T | NP_001184147.1:n.617-2680C>T | |
| NM_001197219.1:c.443-2680C>T | NP_001184148.1:n.443-2680C>T | |
| NM_001197220.1:c.419-2680C>T | NP_001184149.1:n.419-2680C>T | |
| NM_006203.4:c.401-2680C>T | NP_006194.2:n.401-2680C>T | |
| XM_005248537.2:c.479-2680C>T | XP_005248594.1:n.479-2680C>T | |
| XM_005248538.3:c.401-2680C>T | XP_005248595.1:n.401-2680C>T | |
| XM_011543469.1:c.773-2680C>T | XP_011541771.1:n.773-2680C>T | |
| XM_011543470.1:c.773-2680C>T | XP_011541772.1:n.773-2680C>T | |
| XM_011543471.1:c.626-2680C>T | XP_011541773.1:n.626-2680C>T | |
| XM_011543472.1:c.626-2680C>T | XP_011541774.1:n.626-2680C>T | |
| XM_011543473.1:c.626-2680C>T | XP_011541775.1:n.626-2680C>T | |
| XM_011543474.1:c.596-2680C>T | XP_011541776.1:n.596-2680C>T | |
| XM_011543475.1:c.443-2680C>T | XP_011541777.1:n.443-2680C>T | |
| XM_011543476.1:c.389-2680C>T | XP_011541778.1:n.389-2680C>T | |
| XM_011543477.1:c.368-2680C>T | XP_011541779.1:n.368-2680C>T | |
| XM_011543478.1:c.305-2680C>T | XP_011541780.1:n.305-2680C>T | |
| XM_011543479.1:c.305-2680C>T | XP_011541781.1:n.305-2680C>T | |
| XR_948360.1:n.838+6533G>A | ||
| NM_001349241.1:c.596-2680C>T | NP_001336170.1:n.596-2680C>T | |
| NM_001349242.1:c.479-2680C>T | NP_001336171.1:n.479-2680C>T | |
| NM_001349243.1:c.41-2680C>T | NP_001336172.1:n.41-2680C>T | |
| NM_001364599.1:c.626-2680C>T | NP_001351528.1:n.626-2680C>T | |
| NM_001364603.1:c.-98-2680C>T | NP_001351532.1:n.-98-2680C>T | |
| NM_001364604.1:c.41-2680C>T | NP_001351533.1:n.41-2680C>T | |
| XM_011543470.2:c.773-2680C>T | XP_011541772.1:n.773-2680C>T | |
| XM_011543471.2:c.626-2680C>T | XP_011541773.1:n.626-2680C>T | |
| XM_017009565.1:c.773-2680C>T | XP_016865054.1:n.773-2680C>T | |
| XM_017009566.1:c.626-2680C>T | XP_016865055.1:n.626-2680C>T | |
| XM_017009567.1:c.611-2680C>T | XP_016865056.1:n.611-2680C>T | |
| XM_024446110.1:c.773-2680C>T | XP_024301878.1:n.773-2680C>T | |
| XM_024446112.1:c.626-2680C>T | XP_024301880.1:n.626-2680C>T | |
| NM_001104631.2:c.809-2680C>T MANE Select | NP_001098101.1:n.809-2680C>T | |
| NM_001165899.2:c.626-2680C>T | NP_001159371.1:n.626-2680C>T | |
| NM_001197218.2:c.617-2680C>T | NP_001184147.1:n.617-2680C>T | |
| NM_001197219.2:c.443-2680C>T | NP_001184148.1:n.443-2680C>T | |
| NM_001197220.2:c.419-2680C>T | NP_001184149.1:n.419-2680C>T | |
| NM_001349241.2:c.596-2680C>T | NP_001336170.1:n.596-2680C>T | |
| NM_001349243.2:c.41-2680C>T | NP_001336172.1:n.41-2680C>T | |
| NM_001349242.2:c.479-2680C>T | NP_001336171.1:n.479-2680C>T | |
| NM_006203.5:c.401-2680C>T | NP_006194.2:n.401-2680C>T |