gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.135472147T>G , CM000670.2:g.135472147T>G | GRCh38 |
| NC_000008.10:g.136484390T>G , CM000670.1:g.136484390T>G | GRCh37 |
| NC_000008.9:g.136553572T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704572.1:c.460+14193T>G | ENSP00000515947.1:n.460+14193T>G | |
| ENST00000355849.10:c.88+14193T>G MANE Select | ENSP00000348108.5:n.88+14193T>G | |
| ENST00000355849.9:c.88+14193T>G | ENSP00000348108.5:n.88+14193T>G | |
| ENST00000517394.5:c.7+13237T>G | ENSP00000430284.1:n.7+13237T>G | |
| ENST00000520981.5:c.7+13237T>G | ENSP00000428607.1:n.7+13237T>G | |
| ENST00000524199.5:c.4+13964T>G | ENSP00000431022.1:n.4+13964T>G | |
| NM_006558.2:c.88+14193T>G | NP_006549.1:n.88+14193T>G | |
| XM_005250757.1:c.4+13964T>G | XP_005250814.1:n.4+13964T>G | |
| XM_005250758.2:c.88+14193T>G | XP_005250815.1:n.88+14193T>G | |
| XM_011516796.1:c.88+8171T>G | XP_011515098.1:n.88+8171T>G | |
| XM_011516797.1:c.7+13237T>G | XP_011515099.1:n.7+13237T>G | |
| XM_011516798.1:c.88+14193T>G | XP_011515100.1:n.88+14193T>G | |
| XM_011516799.1:c.88+14193T>G | XP_011515101.1:n.88+14193T>G | |
| XR_242372.2:n.494+14193T>G | ||
| XR_242374.2:n.494+14193T>G | ||
| XR_928287.1:n.494+14193T>G | ||
| XM_005250757.3:c.4+13964T>G | XP_005250814.1:n.4+13964T>G | |
| XM_005250758.3:c.88+14193T>G | XP_005250815.1:n.88+14193T>G | |
| XM_011516796.3:c.88+8171T>G | XP_011515098.1:n.88+8171T>G | |
| XM_011516797.2:c.7+13237T>G | XP_011515099.1:n.7+13237T>G | |
| XM_024447052.1:c.4+13964T>G | XP_024302820.1:n.4+13964T>G | |
| XR_001745455.1:n.494+14193T>G | ||
| XR_001745456.1:n.367+13237T>G | ||
| XR_001745457.1:n.237+13964T>G | ||
| XR_001745458.1:n.494+14193T>G | ||
| XR_242374.3:n.494+14193T>G | ||
| NM_006558.3:c.88+14193T>G MANE Select | NP_006549.1:n.88+14193T>G |