gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0640204 (NFE)
Genomes Max Group AF
0.0640204 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43260134C>T , CM000675.2:g.43260134C>T | GRCh38 |
| NC_000013.10:g.43834270C>T , CM000675.1:g.43834270C>T | GRCh37 |
| NC_000013.9:g.42732270C>T | NCBI36 |
| NG_052843.1:g.531847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690772.1:c.1611+5264G>A MANE Select | ENSP00000509229.1:n.1611+5264G>A | |
| ENST00000261488.10:c.1611+5264G>A | ENSP00000261488.6:n.1611+5264G>A | |
| ENST00000412891.1:c.1611+5264G>A | ENSP00000415054.1:n.1611+5264G>A | |
| NM_001127615.1:c.1611+5264G>A | NP_001121087.1:n.1611+5264G>A | |
| NM_001242863.1:c.1611+5264G>A | NP_001229792.1:n.1611+5264G>A | |
| NM_017993.3:c.1611+5264G>A | NP_060463.2:n.1611+5264G>A | |
| XM_005266439.2:c.1611+5264G>A | XP_005266496.1:n.1611+5264G>A | |
| XM_006719841.1:c.1611+5264G>A | XP_006719904.1:n.1611+5264G>A | |
| XM_011535125.1:c.1716+5264G>A | XP_011533427.1:n.1716+5264G>A | |
| XM_011535126.1:c.1611+5264G>A | XP_011533428.1:n.1611+5264G>A | |
| XM_011535127.1:c.1611+5264G>A | XP_011533429.1:n.1611+5264G>A | |
| XM_011535128.1:c.1611+5264G>A | XP_011533430.1:n.1611+5264G>A | |
| XM_011535129.1:c.1611+5264G>A | XP_011533431.1:n.1611+5264G>A | |
| XM_011535130.1:c.1611+5264G>A | XP_011533432.1:n.1611+5264G>A | |
| XM_011535131.1:c.1494+5264G>A | XP_011533433.1:n.1494+5264G>A | |
| XM_011535132.1:c.1494+5264G>A | XP_011533434.1:n.1494+5264G>A | |
| NM_001127615.2:c.1611+5264G>A | NP_001121087.1:n.1611+5264G>A | |
| NM_001242863.2:c.1611+5264G>A | NP_001229792.1:n.1611+5264G>A | |
| NM_001347963.1:c.1716+5264G>A | NP_001334892.1:n.1716+5264G>A | |
| NM_001347964.1:c.1611+5264G>A | NP_001334893.1:n.1611+5264G>A | |
| NM_001347965.1:c.1611+5264G>A | NP_001334894.1:n.1611+5264G>A | |
| NM_001347966.1:c.1611+5264G>A | NP_001334895.1:n.1611+5264G>A | |
| NM_001347967.1:c.1611+5264G>A | NP_001334896.1:n.1611+5264G>A | |
| NM_001347968.1:c.1611+5264G>A | NP_001334897.1:n.1611+5264G>A | |
| NM_001347969.1:c.1611+5264G>A | NP_001334898.1:n.1611+5264G>A | |
| NM_001347970.1:c.1494+5264G>A | NP_001334899.1:n.1494+5264G>A | |
| NM_001347971.1:c.1494+5264G>A | NP_001334900.1:n.1494+5264G>A | |
| NM_017993.4:c.1611+5264G>A | NP_060463.2:n.1611+5264G>A | |
| XM_011535126.3:c.1611+5264G>A | XP_011533428.1:n.1611+5264G>A | |
| XM_011535127.3:c.1611+5264G>A | XP_011533429.1:n.1611+5264G>A | |
| XM_017020637.2:c.1611+5264G>A | XP_016876126.1:n.1611+5264G>A | |
| XM_024449371.1:c.1611+5264G>A | XP_024305139.1:n.1611+5264G>A | |
| XM_024449372.1:c.1611+5264G>A | XP_024305140.1:n.1611+5264G>A | |
| XM_024449373.1:c.1611+5264G>A | XP_024305141.1:n.1611+5264G>A | |
| XM_024449374.1:c.1611+5264G>A | XP_024305142.1:n.1611+5264G>A | |
| XR_001749593.2:n.2113+5264G>A | ||
| XR_001749594.1:n.2167+5264G>A | ||
| NM_001242863.3:c.1611+5264G>A | NP_001229792.1:n.1611+5264G>A | |
| NM_001347963.2:c.1716+5264G>A | NP_001334892.1:n.1716+5264G>A | |
| NM_001347964.2:c.1611+5264G>A | NP_001334893.1:n.1611+5264G>A | |
| NM_001347965.2:c.1611+5264G>A | NP_001334894.1:n.1611+5264G>A | |
| NM_001347966.2:c.1611+5264G>A | NP_001334895.1:n.1611+5264G>A | |
| NM_001347967.2:c.1611+5264G>A | NP_001334896.1:n.1611+5264G>A | |
| NM_001347968.2:c.1611+5264G>A | NP_001334897.1:n.1611+5264G>A | |
| NM_001347969.2:c.1611+5264G>A MANE Select | NP_001334898.1:n.1611+5264G>A | |
| NM_001347970.2:c.1494+5264G>A | NP_001334899.1:n.1494+5264G>A | |
| NM_001347971.2:c.1494+5264G>A | NP_001334900.1:n.1494+5264G>A | |
| NM_017993.5:c.1611+5264G>A | NP_060463.2:n.1611+5264G>A | |
| NM_001127615.3:c.1611+5264G>A | NP_001121087.1:n.1611+5264G>A |