Linked Data
dbSNP Id:
rs370823763
ExAC:
1:19404422 A / C
gnomAD v2:
1-19404422-A-C
gnomAD v4:
1-19077928-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077928A>C , CM000663.2:g.19077928A>C | GRCh38 |
| NC_000001.10:g.19404422A>C , CM000663.1:g.19404422A>C | GRCh37 |
| NC_000001.9:g.19277009A>C | NCBI36 |
| NG_027669.1:g.137325T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15324+48T>G MANE Select | ENSP00000364403.3:n.15324+48T>G | |
| ENST00000375224.1:c.2445+48T>G | ENSP00000364372.1:n.2445+48T>G | |
| ENST00000375225.7:c.549+48T>G | ENSP00000364373.3:n.549+48T>G | |
| ENST00000375254.7:c.15324+48T>G | ENSP00000364403.3:n.15324+48T>G | |
| ENST00000459947.5:n.3331+48T>G | ||
| NM_020765.2:c.15324+48T>G | NP_065816.2:n.15324+48T>G | |
| XM_011541108.1:c.15477+48T>G | XP_011539410.1:n.15477+48T>G | |
| XM_011541109.1:c.15474+48T>G | XP_011539411.1:n.15474+48T>G | |
| XM_011541110.1:c.15474+48T>G | XP_011539412.1:n.15474+48T>G | |
| XM_011541111.1:c.15474+48T>G | XP_011539413.1:n.15474+48T>G | |
| XM_011541112.1:c.15462+48T>G | XP_011539414.1:n.15462+48T>G | |
| XM_011541113.1:c.15459+48T>G | XP_011539415.1:n.15459+48T>G | |
| XM_011541114.1:c.15459+48T>G | XP_011539416.1:n.15459+48T>G | |
| XM_011541115.1:c.15453+48T>G | XP_011539417.1:n.15453+48T>G | |
| XM_011541116.1:c.15444+48T>G | XP_011539418.1:n.15444+48T>G | |
| XM_011541117.1:c.15393+48T>G | XP_011539419.1:n.15393+48T>G | |
| XM_011541118.1:c.15390+48T>G | XP_011539420.1:n.15390+48T>G | |
| XM_011541119.1:c.15357+48T>G | XP_011539421.1:n.15357+48T>G | |
| XM_011541120.1:c.15354+48T>G | XP_011539422.1:n.15354+48T>G | |
| XM_011541121.1:c.15321+48T>G | XP_011539423.1:n.15321+48T>G | |
| XM_011541108.3:c.15591+48T>G | XP_011539410.2:n.15591+48T>G | |
| XM_011541109.3:c.15588+48T>G | XP_011539411.2:n.15588+48T>G | |
| XM_011541110.3:c.15588+48T>G | XP_011539412.2:n.15588+48T>G | |
| XM_011541111.3:c.15588+48T>G | XP_011539413.2:n.15588+48T>G | |
| XM_011541112.3:c.15576+48T>G | XP_011539414.2:n.15576+48T>G | |
| XM_011541113.3:c.15573+48T>G | XP_011539415.2:n.15573+48T>G | |
| XM_011541114.3:c.15573+48T>G | XP_011539416.2:n.15573+48T>G | |
| XM_011541115.3:c.15567+48T>G | XP_011539417.2:n.15567+48T>G | |
| XM_011541116.3:c.15558+48T>G | XP_011539418.2:n.15558+48T>G | |
| XM_011541117.3:c.15507+48T>G | XP_011539419.2:n.15507+48T>G | |
| XM_011541118.3:c.15504+48T>G | XP_011539420.2:n.15504+48T>G | |
| XM_011541119.3:c.15471+48T>G | XP_011539421.2:n.15471+48T>G | |
| XM_011541120.3:c.15468+48T>G | XP_011539422.2:n.15468+48T>G | |
| XM_011541121.3:c.15435+48T>G | XP_011539423.2:n.15435+48T>G | |
| XM_017000822.2:c.15570+48T>G | XP_016856311.2:n.15570+48T>G | |
| XM_017000823.2:c.15543+48T>G | XP_016856312.2:n.15543+48T>G | |
| XM_017000824.2:c.15489+48T>G | XP_016856313.2:n.15489+48T>G | |
| XM_017000825.2:c.15474+48T>G | XP_016856314.2:n.15474+48T>G | |
| XM_017000826.2:c.15471+48T>G | XP_016856315.2:n.15471+48T>G | |
| XM_017000827.2:c.15456+48T>G | XP_016856316.2:n.15456+48T>G | |
| XM_017000828.2:c.15432+48T>G | XP_016856317.2:n.15432+48T>G | |
| XM_017000829.2:c.15384+48T>G | XP_016856318.2:n.15384+48T>G | |
| XM_017000830.2:c.15333+48T>G | XP_016856319.2:n.15333+48T>G | |
| NM_020765.3:c.15324+48T>G MANE Select | NP_065816.2:n.15324+48T>G |