gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59597693G>A , CM000667.2:g.59597693G>A | GRCh38 |
| NC_000005.9:g.58893519G>A , CM000667.1:g.58893519G>A | GRCh37 |
| NC_000005.8:g.58929276G>A | NCBI36 |
| NG_027957.1:g.895407C>T | |
| NG_027957.2:g.931637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.263+170554C>T | ENSP00000424852.1:n.263+170554C>T | |
| ENST00000340635.11:c.455+295475C>T MANE Select | ENSP00000345502.6:n.455+295475C>T | |
| ENST00000309641.10:c.263+170554C>T | ENSP00000308485.6:n.263+170554C>T | |
| ENST00000340635.10:c.455+295475C>T | ENSP00000345502.6:n.455+295475C>T | |
| ENST00000405053.7:n.118+295475C>T | ||
| ENST00000502484.6:c.273-381725C>T | ENSP00000423094.2:n.273-381725C>T | |
| ENST00000502575.1:c.263+170554C>T | ENSP00000425917.1:n.263+170554C>T | |
| ENST00000507116.5:c.263+170554C>T | ENSP00000424852.1:n.263+170554C>T | |
| ENST00000512069.6:n.218-36779C>T | ||
| ENST00000514231.1:n.218+199367C>T | ||
| NM_001104631.1:c.455+295475C>T | NP_001098101.1:n.455+295475C>T | |
| NM_001165899.1:c.273-381725C>T | NP_001159371.1:n.273-381725C>T | |
| NM_001197218.1:c.263+170554C>T | NP_001184147.1:n.263+170554C>T | |
| XM_011543469.1:c.420-381725C>T | XP_011541771.1:n.420-381725C>T | |
| XM_011543470.1:c.420-381725C>T | XP_011541772.1:n.420-381725C>T | |
| XM_011543471.1:c.273-381725C>T | XP_011541773.1:n.273-381725C>T | |
| XM_011543472.1:c.273-381725C>T | XP_011541774.1:n.273-381725C>T | |
| XM_011543473.1:c.273-381725C>T | XP_011541775.1:n.273-381725C>T | |
| XM_011543474.1:c.243-381725C>T | XP_011541776.1:n.243-381725C>T | |
| XM_011543477.1:c.14+199367C>T | XP_011541779.1:n.14+199367C>T | |
| NM_001349241.1:c.243-381725C>T | NP_001336170.1:n.243-381725C>T | |
| NM_001349243.1:c.-239-381725C>T | NP_001336172.1:n.-239-381725C>T | |
| NM_001364599.1:c.273-381725C>T | NP_001351528.1:n.273-381725C>T | |
| NM_001364600.1:c.273-381725C>T | NP_001351529.1:n.273-381725C>T | |
| NM_001364601.1:c.263+170554C>T | NP_001351530.1:n.263+170554C>T | |
| NM_001364602.1:c.263+170554C>T | NP_001351531.1:n.263+170554C>T | |
| NM_001364603.1:c.-496+170554C>T | NP_001351532.1:n.-496+170554C>T | |
| XM_011543470.2:c.420-381725C>T | XP_011541772.1:n.420-381725C>T | |
| XM_011543471.2:c.273-381725C>T | XP_011541773.1:n.273-381725C>T | |
| XM_017009565.1:c.420-381725C>T | XP_016865054.1:n.420-381725C>T | |
| XM_017009566.1:c.273-381725C>T | XP_016865055.1:n.273-381725C>T | |
| XM_017009567.1:c.258-381725C>T | XP_016865056.1:n.258-381725C>T | |
| XM_024446110.1:c.420-381725C>T | XP_024301878.1:n.420-381725C>T | |
| XM_024446112.1:c.273-381725C>T | XP_024301880.1:n.273-381725C>T | |
| NM_001104631.2:c.455+295475C>T MANE Select | NP_001098101.1:n.455+295475C>T | |
| NM_001165899.2:c.273-381725C>T | NP_001159371.1:n.273-381725C>T | |
| NM_001197218.2:c.263+170554C>T | NP_001184147.1:n.263+170554C>T | |
| NM_001349241.2:c.243-381725C>T | NP_001336170.1:n.243-381725C>T | |
| NM_001349243.2:c.-239-381725C>T | NP_001336172.1:n.-239-381725C>T | |
| NM_001364600.2:c.273-381725C>T | NP_001351529.1:n.273-381725C>T | |
| NM_001364602.2:c.263+170554C>T | NP_001351531.1:n.263+170554C>T |