gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78692296A>T , CM000669.2:g.78692296A>T | GRCh38 |
| NC_000007.13:g.78321612A>T , CM000669.1:g.78321612A>T | GRCh37 |
| NC_000007.12:g.78159548A>T | NCBI36 |
| NG_011487.1:g.766279T>A | |
| NG_011487.2:g.766279T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.419-65057T>A MANE Select | ENSP00000346151.4:n.419-65057T>A | |
| ENST00000636717.1:c.-191-65057T>A | ENSP00000490128.1:n.-191-65057T>A | |
| ENST00000636993.1:n.191-65057T>A | ||
| ENST00000637441.1:c.419-65057T>A | ENSP00000489633.1:n.419-65057T>A | |
| ENST00000637486.1:c.-71-65057T>A | ENSP00000490080.1:n.-71-65057T>A | |
| ENST00000676103.1:n.273-65057T>A | ||
| ENST00000354212.8:c.419-65057T>A | ENSP00000346151.4:n.419-65057T>A | |
| ENST00000419488.5:c.419-65057T>A | ENSP00000405766.1:n.419-65057T>A | |
| ENST00000522391.3:c.419-65057T>A | ENSP00000428389.1:n.419-65057T>A | |
| ENST00000626691.2:c.-71-65057T>A | ENSP00000486131.1:n.-71-65057T>A | |
| ENST00000628781.1:c.-71-65057T>A | ENSP00000485970.1:n.-71-65057T>A | |
| ENST00000629359.2:c.-71-65057T>A | ENSP00000487448.1:n.-71-65057T>A | |
| ENST00000630991.2:c.-325-65057T>A | ENSP00000487435.1:n.-325-65057T>A | |
| NM_001301128.1:c.419-65057T>A | NP_001288057.1:n.419-65057T>A | |
| NM_012301.3:c.419-65057T>A | NP_036433.2:n.419-65057T>A | |
| XM_011516718.1:c.419-65057T>A | XP_011515020.1:n.419-65057T>A | |
| XM_011516719.1:c.-71-65057T>A | XP_011515021.1:n.-71-65057T>A | |
| XM_011516720.1:c.-72+17137T>A | XP_011515022.1:n.-72+17137T>A | |
| XM_011516723.1:c.419-65057T>A | XP_011515025.1:n.419-65057T>A | |
| XM_011516724.1:c.419-65057T>A | XP_011515026.1:n.419-65057T>A | |
| XM_011516725.1:c.419-65057T>A | XP_011515027.1:n.419-65057T>A | |
| XM_011516718.2:c.419-65057T>A | XP_011515020.1:n.419-65057T>A | |
| XM_011516719.3:c.-71-65057T>A | XP_011515021.1:n.-71-65057T>A | |
| XM_011516720.3:c.-72+17137T>A | XP_011515022.1:n.-72+17137T>A | |
| XM_017012840.2:c.419-65057T>A | XP_016868329.1:n.419-65057T>A | |
| XM_017012841.2:c.419-65057T>A | XP_016868330.1:n.419-65057T>A | |
| XM_017012842.2:c.419-65057T>A | XP_016868331.1:n.419-65057T>A | |
| XM_017012843.2:c.419-65057T>A | XP_016868332.1:n.419-65057T>A | |
| XM_017012844.2:c.419-65057T>A | XP_016868333.1:n.419-65057T>A | |
| XM_017012845.2:c.419-65057T>A | XP_016868334.1:n.419-65057T>A | |
| XM_017012846.2:c.419-65057T>A | XP_016868335.1:n.419-65057T>A | |
| XM_017012847.2:c.-72+17137T>A | XP_016868336.1:n.-72+17137T>A | |
| XM_017012848.2:c.-71-65057T>A | XP_016868337.1:n.-71-65057T>A | |
| XM_017012849.2:c.-71-65057T>A | XP_016868338.1:n.-71-65057T>A | |
| XM_017012850.2:c.419-65057T>A | XP_016868339.1:n.419-65057T>A | |
| XM_017012851.2:c.419-65057T>A | XP_016868340.1:n.419-65057T>A | |
| XM_017012852.2:c.419-65057T>A | XP_016868341.1:n.419-65057T>A | |
| XM_024447009.1:c.-71-65057T>A | XP_024302777.1:n.-71-65057T>A | |
| NM_012301.4:c.419-65057T>A MANE Select | NP_036433.2:n.419-65057T>A | |
| NM_001301128.2:c.419-65057T>A | NP_001288057.1:n.419-65057T>A |