gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57734213 (SAS)
Genomes Max Group AF
0.57734213 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.7030268G>T , CM000671.2:g.7030268G>T | GRCh38 |
| NC_000009.11:g.7030268G>T , CM000671.1:g.7030268G>T | GRCh37 |
| NC_000009.10:g.7020268G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536108.6:c.2325+14339G>T | ENSP00000440656.3:n.2325+14339G>T | |
| ENST00000381309.8:c.2259+14339G>T MANE Select | ENSP00000370710.3:n.2259+14339G>T | |
| ENST00000381306.7:c.2259+14339G>T | ENSP00000370707.3:n.2259+14339G>T | |
| ENST00000381309.7:c.2259+14339G>T | ENSP00000370710.3:n.2259+14339G>T | |
| ENST00000420847.2:c.291+14339G>T | ENSP00000400127.1:n.291+14339G>T | |
| ENST00000428870.6:c.1320+14339G>T | ENSP00000405739.2:n.1320+14339G>T | |
| ENST00000535193.3:c.2325+14339G>T | ENSP00000442382.1:n.2325+14339G>T | |
| ENST00000536108.5:c.2259+14339G>T | ENSP00000440656.2:n.2259+14339G>T | |
| ENST00000543771.5:c.2259+14339G>T | ENSP00000445427.1:n.2259+14339G>T | |
| NM_001146695.1:c.2259+14339G>T | NP_001140167.1:n.2259+14339G>T | |
| NM_001146696.1:c.2325+14339G>T | NP_001140168.1:n.2325+14339G>T | |
| NM_001304339.1:c.2259+14339G>T | NP_001291268.1:n.2259+14339G>T | |
| NM_001304340.1:c.1494+14339G>T | NP_001291269.1:n.1494+14339G>T | |
| NM_015061.3:c.2259+14339G>T | NP_055876.2:n.2259+14339G>T | |
| XM_006716741.1:c.2259+14339G>T | XP_006716804.1:n.2259+14339G>T | |
| XM_011517808.1:c.2259+14339G>T | XP_011516110.1:n.2259+14339G>T | |
| XM_011517809.1:c.2259+14339G>T | XP_011516111.1:n.2259+14339G>T | |
| XM_011517810.1:c.1716+14339G>T | XP_011516112.1:n.1716+14339G>T | |
| XM_011517811.1:c.1716+14339G>T | XP_011516113.1:n.1716+14339G>T | |
| XM_011517812.1:c.1665+14339G>T | XP_011516114.1:n.1665+14339G>T | |
| XM_011517814.1:c.1530+14339G>T | XP_011516116.1:n.1530+14339G>T | |
| XM_011517815.1:c.2260-10202G>T | XP_011516117.1:n.2260-10202G>T | |
| XM_011517816.1:c.1320+14339G>T | XP_011516118.1:n.1320+14339G>T | |
| XR_929221.1:n.2276+14339G>T | ||
| XR_929222.1:n.2276+14339G>T | ||
| XR_929223.1:n.2276+14339G>T | ||
| NM_001146695.2:c.2259+14339G>T | NP_001140167.1:n.2259+14339G>T | |
| NM_001304339.2:c.2259+14339G>T | NP_001291268.1:n.2259+14339G>T | |
| NM_001304340.2:c.1494+14339G>T | NP_001291269.1:n.1494+14339G>T | |
| NM_001353997.1:c.2259+14339G>T | NP_001340926.1:n.2259+14339G>T | |
| NM_001353998.1:c.2259+14339G>T | NP_001340927.1:n.2259+14339G>T | |
| NM_001353999.1:c.948+14339G>T | NP_001340928.1:n.948+14339G>T | |
| NM_001354000.1:c.948+14339G>T | NP_001340929.1:n.948+14339G>T | |
| NM_001354001.1:c.948+14339G>T | NP_001340930.1:n.948+14339G>T | |
| NM_015061.4:c.2259+14339G>T | NP_055876.2:n.2259+14339G>T | |
| NR_148677.1:n.3130+14339G>T | ||
| NR_148678.1:n.3130+14339G>T | ||
| NR_148679.1:n.4050+14339G>T | ||
| NR_148680.1:n.4054+14339G>T | ||
| XM_011517811.3:c.1716+14339G>T | XP_011516113.1:n.1716+14339G>T | |
| XM_017014498.2:c.2259+14339G>T | XP_016869987.1:n.2259+14339G>T | |
| XM_017014499.2:c.1839+14339G>T | XP_016869988.1:n.1839+14339G>T | |
| XM_017014501.2:c.1665+14339G>T | XP_016869990.1:n.1665+14339G>T | |
| XM_017014502.2:c.2259+14339G>T | XP_016869991.1:n.2259+14339G>T | |
| XM_017014504.2:c.2260-10202G>T | XP_016869993.1:n.2260-10202G>T | |
| XM_024447458.1:c.1839+14339G>T | XP_024303226.1:n.1839+14339G>T | |
| XM_024447459.1:c.948+14339G>T | XP_024303227.1:n.948+14339G>T | |
| XR_001746252.2:n.2836+14339G>T | ||
| XR_001746255.2:n.2836+14339G>T | ||
| NM_001146695.4:c.2259+14339G>T | NP_001140167.1:n.2259+14339G>T | |
| NM_001146696.2:c.2325+14339G>T | NP_001140168.1:n.2325+14339G>T | |
| NM_001304339.4:c.2259+14339G>T | NP_001291268.1:n.2259+14339G>T | |
| NM_001304340.4:c.1494+14339G>T | NP_001291269.1:n.1494+14339G>T | |
| NM_001353997.3:c.2259+14339G>T | NP_001340926.1:n.2259+14339G>T | |
| NM_001353998.3:c.2259+14339G>T | NP_001340927.1:n.2259+14339G>T | |
| NM_001353999.3:c.948+14339G>T | NP_001340928.1:n.948+14339G>T | |
| NM_001354000.3:c.948+14339G>T | NP_001340929.1:n.948+14339G>T | |
| NM_001354001.3:c.948+14339G>T | NP_001340930.1:n.948+14339G>T | |
| NM_015061.6:c.2259+14339G>T MANE Select | NP_055876.2:n.2259+14339G>T | |
| NR_148677.3:n.2507+14339G>T | ||
| NR_148678.3:n.2507+14339G>T | ||
| NR_148679.3:n.3427+14339G>T | ||
| NR_148680.3:n.3431+14339G>T |