gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.20739883A>T , CM000671.2:g.20739883A>T | GRCh38 |
| NC_000009.11:g.20739882A>T , CM000671.1:g.20739882A>T | GRCh37 |
| NC_000009.10:g.20729882A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338382.11:c.288-353A>T MANE Select | ENSP00000344307.6:n.288-353A>T | |
| ENST00000338382.10:c.288-353A>T | ENSP00000344307.6:n.288-353A>T | |
| ENST00000380249.5:c.288-353A>T | ENSP00000369599.1:n.288-353A>T | |
| ENST00000604103.1:n.83-353A>T | ||
| ENST00000605031.5:n.64-353A>T | ||
| NM_017794.4:c.288-353A>T | NP_060264.4:n.288-353A>T | |
| XM_005251494.3:c.288-353A>T | XP_005251551.2:n.288-353A>T | |
| XM_011517944.1:c.288-353A>T | XP_011516246.1:n.288-353A>T | |
| XM_011517945.1:c.288-18207A>T | XP_011516247.1:n.288-18207A>T | |
| XM_011517946.1:c.288-353A>T | XP_011516248.1:n.288-353A>T | |
| XM_011517947.1:c.288-353A>T | XP_011516249.1:n.288-353A>T | |
| XM_011517948.1:c.288-353A>T | XP_011516250.1:n.288-353A>T | |
| XM_005251494.4:c.288-353A>T | XP_005251551.2:n.288-353A>T | |
| XM_011517945.2:c.288-18207A>T | XP_011516247.1:n.288-18207A>T | |
| XM_017014852.1:c.369-353A>T | XP_016870341.1:n.369-353A>T | |
| XM_017014853.1:c.369-353A>T | XP_016870342.1:n.369-353A>T | |
| XM_017014854.1:c.369-18207A>T | XP_016870343.1:n.369-18207A>T | |
| XM_017014855.1:c.369-353A>T | XP_016870344.1:n.369-353A>T | |
| XM_017014856.1:c.369-353A>T | XP_016870345.1:n.369-353A>T | |
| XM_017014857.2:c.288-353A>T | XP_016870346.1:n.288-353A>T | |
| XM_017014858.2:c.288-18207A>T | XP_016870347.1:n.288-18207A>T | |
| XM_024447585.1:c.288-353A>T | XP_024303353.1:n.288-353A>T | |
| XM_024447586.1:c.-28-353A>T | XP_024303354.1:n.-28-353A>T | |
| NM_001375567.1:c.288-353A>T MANE Select | NP_001362496.1:n.288-353A>T | |
| NM_001375568.1:c.288-353A>T | NP_001362497.1:n.288-353A>T | |
| NM_001375570.1:c.288-18207A>T | NP_001362499.1:n.288-18207A>T | |
| NM_017794.5:c.288-353A>T | NP_060264.4:n.288-353A>T |