Linked Data
dbSNP Id:
rs10404486
gnomAD v2:
19-53284135-C-T
gnomAD v3:
19-52780882-C-T
gnomAD v4:
19-52780882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52780882C>T , CM000681.2:g.52780882C>T | GRCh38 |
| NC_000019.9:g.53284135C>T , CM000681.1:g.53284135C>T | GRCh37 |
| NC_000019.8:g.57975947C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685388.1:c.-19-1975G>A | ENSP00000510246.1:n.-19-1975G>A | |
| ENST00000688329.1:c.-214G>A | ENSP00000509375.1:n.-214G>A | |
| ENST00000692063.1:c.-321G>A MANE Select | ENSP00000509267.1:n.-321G>A | |
| ENST00000647907.1:c.-19-1975G>A | ENSP00000497989.1:n.-19-1975G>A | |
| ENST00000648893.1:c.-20+435G>A | ENSP00000497895.1:n.-20+435G>A | |
| ENST00000648973.1:c.-19-1975G>A | ENSP00000497540.1:n.-19-1975G>A | |
| ENST00000338230.3:c.-99-1975G>A | ENSP00000344791.2:n.-99-1975G>A | |
| ENST00000360272.5:c.824-13869G>A | ENSP00000353410.5:n.824-13869G>A | |
| ENST00000594028.1:n.452G>A | ||
| ENST00000597124.1:n.280G>A | ||
| ENST00000599893.1:n.371G>A | ||
| NM_198457.2:c.-99-1975G>A | NP_940859.2:n.-99-1975G>A | |
| XM_005258576.3:c.-19-1975G>A | XP_005258633.1:n.-19-1975G>A | |
| XM_006723055.2:c.-19-1975G>A | XP_006723118.1:n.-19-1975G>A | |
| XM_006723057.2:c.64-6181G>A | XP_006723120.1:n.64-6181G>A | |
| XM_006723058.2:c.64-6181G>A | XP_006723121.1:n.64-6181G>A | |
| XM_011526563.1:c.-321G>A | XP_011524865.1:n.-321G>A | |
| XM_011526564.1:c.-20+435G>A | XP_011524866.1:n.-20+435G>A | |
| XM_011526565.1:c.-20+435G>A | XP_011524867.1:n.-20+435G>A | |
| XM_011526566.1:c.-401G>A | XP_011524868.1:n.-401G>A | |
| NM_001321866.1:c.-321G>A | NP_001308795.1:n.-321G>A | |
| NM_001321867.1:c.-19-1975G>A | NP_001308796.1:n.-19-1975G>A | |
| NM_198457.3:c.-99-1975G>A | NP_940859.3:n.-99-1975G>A | |
| XM_017026390.1:c.-214G>A | XP_016881879.1:n.-214G>A | |
| XM_017026391.1:c.-321G>A | XP_016881880.1:n.-321G>A | |
| XM_017026392.1:c.-214G>A | XP_016881881.1:n.-214G>A | |
| NM_001321866.2:c.-321G>A | NP_001308795.1:n.-321G>A | |
| NM_001321867.2:c.-19-1975G>A | NP_001308796.1:n.-19-1975G>A | |
| NM_198457.4:c.-99-1975G>A | NP_940859.3:n.-99-1975G>A | |
| NM_001321866.3:c.-321G>A | NP_001308795.1:n.-321G>A | |
| NM_001321867.3:c.-19-1975G>A | NP_001308796.1:n.-19-1975G>A | |
| NM_198457.5:c.-99-1975G>A | NP_940859.3:n.-99-1975G>A | |
| NM_001321866.4:c.-321G>A MANE Select | NP_001308795.1:n.-321G>A |