Linked Data
dbSNP Id:
rs773440131
ExAC:
1:19404390 G / T
gnomAD v2:
1-19404390-G-T
gnomAD v4:
1-19077896-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077896G>T , CM000663.2:g.19077896G>T | GRCh38 |
| NC_000001.10:g.19404390G>T , CM000663.1:g.19404390G>T | GRCh37 |
| NC_000001.9:g.19276977G>T | NCBI36 |
| NG_027669.1:g.137357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15324+80C>A MANE Select | ENSP00000364403.3:n.15324+80C>A | |
| ENST00000375224.1:c.2445+80C>A | ENSP00000364372.1:n.2445+80C>A | |
| ENST00000375225.7:c.549+80C>A | ENSP00000364373.3:n.549+80C>A | |
| ENST00000375254.7:c.15324+80C>A | ENSP00000364403.3:n.15324+80C>A | |
| ENST00000459947.5:n.3331+80C>A | ||
| NM_020765.2:c.15324+80C>A | NP_065816.2:n.15324+80C>A | |
| XM_011541108.1:c.15477+80C>A | XP_011539410.1:n.15477+80C>A | |
| XM_011541109.1:c.15474+80C>A | XP_011539411.1:n.15474+80C>A | |
| XM_011541110.1:c.15474+80C>A | XP_011539412.1:n.15474+80C>A | |
| XM_011541111.1:c.15474+80C>A | XP_011539413.1:n.15474+80C>A | |
| XM_011541112.1:c.15462+80C>A | XP_011539414.1:n.15462+80C>A | |
| XM_011541113.1:c.15459+80C>A | XP_011539415.1:n.15459+80C>A | |
| XM_011541114.1:c.15459+80C>A | XP_011539416.1:n.15459+80C>A | |
| XM_011541115.1:c.15453+80C>A | XP_011539417.1:n.15453+80C>A | |
| XM_011541116.1:c.15444+80C>A | XP_011539418.1:n.15444+80C>A | |
| XM_011541117.1:c.15393+80C>A | XP_011539419.1:n.15393+80C>A | |
| XM_011541118.1:c.15390+80C>A | XP_011539420.1:n.15390+80C>A | |
| XM_011541119.1:c.15357+80C>A | XP_011539421.1:n.15357+80C>A | |
| XM_011541120.1:c.15354+80C>A | XP_011539422.1:n.15354+80C>A | |
| XM_011541121.1:c.15321+80C>A | XP_011539423.1:n.15321+80C>A | |
| XM_011541108.3:c.15591+80C>A | XP_011539410.2:n.15591+80C>A | |
| XM_011541109.3:c.15588+80C>A | XP_011539411.2:n.15588+80C>A | |
| XM_011541110.3:c.15588+80C>A | XP_011539412.2:n.15588+80C>A | |
| XM_011541111.3:c.15588+80C>A | XP_011539413.2:n.15588+80C>A | |
| XM_011541112.3:c.15576+80C>A | XP_011539414.2:n.15576+80C>A | |
| XM_011541113.3:c.15573+80C>A | XP_011539415.2:n.15573+80C>A | |
| XM_011541114.3:c.15573+80C>A | XP_011539416.2:n.15573+80C>A | |
| XM_011541115.3:c.15567+80C>A | XP_011539417.2:n.15567+80C>A | |
| XM_011541116.3:c.15558+80C>A | XP_011539418.2:n.15558+80C>A | |
| XM_011541117.3:c.15507+80C>A | XP_011539419.2:n.15507+80C>A | |
| XM_011541118.3:c.15504+80C>A | XP_011539420.2:n.15504+80C>A | |
| XM_011541119.3:c.15471+80C>A | XP_011539421.2:n.15471+80C>A | |
| XM_011541120.3:c.15468+80C>A | XP_011539422.2:n.15468+80C>A | |
| XM_011541121.3:c.15435+80C>A | XP_011539423.2:n.15435+80C>A | |
| XM_017000822.2:c.15570+80C>A | XP_016856311.2:n.15570+80C>A | |
| XM_017000823.2:c.15543+80C>A | XP_016856312.2:n.15543+80C>A | |
| XM_017000824.2:c.15489+80C>A | XP_016856313.2:n.15489+80C>A | |
| XM_017000825.2:c.15474+80C>A | XP_016856314.2:n.15474+80C>A | |
| XM_017000826.2:c.15471+80C>A | XP_016856315.2:n.15471+80C>A | |
| XM_017000827.2:c.15456+80C>A | XP_016856316.2:n.15456+80C>A | |
| XM_017000828.2:c.15432+80C>A | XP_016856317.2:n.15432+80C>A | |
| XM_017000829.2:c.15384+80C>A | XP_016856318.2:n.15384+80C>A | |
| XM_017000830.2:c.15333+80C>A | XP_016856319.2:n.15333+80C>A | |
| NM_020765.3:c.15324+80C>A MANE Select | NP_065816.2:n.15324+80C>A |