Linked Data
dbSNP Id:
rs702543
gnomAD v2:
5-58842774-C-T
gnomAD v3:
5-59546948-C-T
gnomAD v4:
5-59546948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59546948C>T , CM000667.2:g.59546948C>T | GRCh38 |
| NC_000005.9:g.58842774C>T , CM000667.1:g.58842774C>T | GRCh37 |
| NC_000005.8:g.58878531C>T | NCBI36 |
| NG_027957.1:g.946152G>A | |
| NG_027957.2:g.982382G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507116.6:c.263+221299G>A | ENSP00000424852.1:n.263+221299G>A | |
| ENST00000340635.11:c.456-330980G>A MANE Select | ENSP00000345502.6:n.456-330980G>A | |
| ENST00000309641.10:c.263+221299G>A | ENSP00000308485.6:n.263+221299G>A | |
| ENST00000340635.10:c.456-330980G>A | ENSP00000345502.6:n.456-330980G>A | |
| ENST00000360047.9:c.47+39381G>A | ENSP00000353152.5:n.47+39381G>A | |
| ENST00000405053.7:n.119-330980G>A | ||
| ENST00000502484.6:c.273-330980G>A | ENSP00000423094.2:n.273-330980G>A | |
| ENST00000502575.1:c.263+221299G>A | ENSP00000425917.1:n.263+221299G>A | |
| ENST00000505453.1:c.-99+39381G>A | ENSP00000421013.1:n.-99+39381G>A | |
| ENST00000507116.5:c.263+221299G>A | ENSP00000424852.1:n.263+221299G>A | |
| ENST00000514231.1:n.218+250112G>A | ||
| NM_001104631.1:c.456-330980G>A | NP_001098101.1:n.456-330980G>A | |
| NM_001165899.1:c.273-330980G>A | NP_001159371.1:n.273-330980G>A | |
| NM_001197218.1:c.263+221299G>A | NP_001184147.1:n.263+221299G>A | |
| NM_006203.4:c.47+39381G>A | NP_006194.2:n.47+39381G>A | |
| XM_005248538.3:c.47+39381G>A | XP_005248595.1:n.47+39381G>A | |
| XM_011543469.1:c.420-330980G>A | XP_011541771.1:n.420-330980G>A | |
| XM_011543470.1:c.420-330980G>A | XP_011541772.1:n.420-330980G>A | |
| XM_011543471.1:c.273-330980G>A | XP_011541773.1:n.273-330980G>A | |
| XM_011543472.1:c.273-330980G>A | XP_011541774.1:n.273-330980G>A | |
| XM_011543473.1:c.273-330980G>A | XP_011541775.1:n.273-330980G>A | |
| XM_011543474.1:c.243-330980G>A | XP_011541776.1:n.243-330980G>A | |
| XM_011543477.1:c.14+250112G>A | XP_011541779.1:n.14+250112G>A | |
| XM_011543478.1:c.-266+39381G>A | XP_011541780.1:n.-266+39381G>A | |
| NM_001349241.1:c.243-330980G>A | NP_001336170.1:n.243-330980G>A | |
| NM_001349242.1:c.-246+39381G>A | NP_001336171.1:n.-246+39381G>A | |
| NM_001349243.1:c.-239-330980G>A | NP_001336172.1:n.-239-330980G>A | |
| NM_001364599.1:c.273-330980G>A | NP_001351528.1:n.273-330980G>A | |
| NM_001364600.1:c.273-330980G>A | NP_001351529.1:n.273-330980G>A | |
| NM_001364601.1:c.263+221299G>A | NP_001351530.1:n.263+221299G>A | |
| NM_001364602.1:c.263+221299G>A | NP_001351531.1:n.263+221299G>A | |
| NM_001364603.1:c.-496+221299G>A | NP_001351532.1:n.-496+221299G>A | |
| NM_001364604.1:c.-240+39381G>A | NP_001351533.1:n.-240+39381G>A | |
| XM_011543470.2:c.420-330980G>A | XP_011541772.1:n.420-330980G>A | |
| XM_011543471.2:c.273-330980G>A | XP_011541773.1:n.273-330980G>A | |
| XM_017009565.1:c.420-330980G>A | XP_016865054.1:n.420-330980G>A | |
| XM_017009566.1:c.273-330980G>A | XP_016865055.1:n.273-330980G>A | |
| XM_017009567.1:c.258-330980G>A | XP_016865056.1:n.258-330980G>A | |
| XM_024446110.1:c.420-330980G>A | XP_024301878.1:n.420-330980G>A | |
| XM_024446112.1:c.273-330980G>A | XP_024301880.1:n.273-330980G>A | |
| NM_001104631.2:c.456-330980G>A MANE Select | NP_001098101.1:n.456-330980G>A | |
| NM_001165899.2:c.273-330980G>A | NP_001159371.1:n.273-330980G>A | |
| NM_001197218.2:c.263+221299G>A | NP_001184147.1:n.263+221299G>A | |
| NM_001349241.2:c.243-330980G>A | NP_001336170.1:n.243-330980G>A | |
| NM_001349243.2:c.-239-330980G>A | NP_001336172.1:n.-239-330980G>A | |
| NM_001364600.2:c.273-330980G>A | NP_001351529.1:n.273-330980G>A | |
| NM_001364602.2:c.263+221299G>A | NP_001351531.1:n.263+221299G>A | |
| NM_001349242.2:c.-246+39381G>A | NP_001336171.1:n.-246+39381G>A | |
| NM_006203.5:c.47+39381G>A | NP_006194.2:n.47+39381G>A |