gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218385280G>A , CM000664.2:g.218385280G>A | GRCh38 |
| NC_000002.11:g.219250003G>A , CM000664.1:g.219250003G>A | GRCh37 |
| NC_000002.10:g.218958247G>A | NCBI36 |
| NG_012128.1:g.8252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233202.11:c.393+14G>A MANE Select | ENSP00000233202.6:n.393+14G>A | |
| ENST00000233202.10:c.393+14G>A | ENSP00000233202.6:n.393+14G>A | |
| ENST00000354352.9:c.393+14G>A | ENSP00000346320.5:n.393+14G>A | |
| ENST00000460592.1:n.112+14G>A | ||
| ENST00000465984.5:n.451+14G>A | ||
| ENST00000468221.5:n.2654+14G>A | ||
| ENST00000469449.1:n.813G>A | ||
| ENST00000469799.5:n.217+14G>A | ||
| ENST00000471875.5:n.435+14G>A | ||
| ENST00000473367.5:c.*44+14G>A | ENSP00000484905.1:n.*44+14G>A | |
| ENST00000475225.5:n.352+14G>A | ||
| ENST00000481524.5:c.*1+14G>A | ENSP00000483970.1:n.*1+14G>A | |
| ENST00000483487.2:n.319+14G>A | ||
| ENST00000492413.5:n.475+14G>A | ||
| ENST00000494322.5:n.489+14G>A | ||
| ENST00000539932.5:c.*1+14G>A | ENSP00000443435.2:n.*1+14G>A | |
| NM_000578.3:c.393+14G>A | NP_000569.3:n.393+14G>A | |
| XM_005246793.2:c.192+14G>A | XP_005246850.1:n.192+14G>A | |
| XM_005246794.2:c.-36+14G>A | XP_005246851.1:n.-36+14G>A | |
| XM_006712709.2:c.-36+14G>A | XP_006712772.1:n.-36+14G>A | |
| XM_006712710.2:c.-36+14G>A | XP_006712773.1:n.-36+14G>A | |
| XM_006712711.2:c.-55+14G>A | XP_006712774.1:n.-55+14G>A | |
| XM_011511684.1:c.-44+14G>A | XP_011509986.1:n.-44+14G>A | |
| XM_011511685.1:c.-44+14G>A | XP_011509987.1:n.-44+14G>A | |
| XR_427107.1:n.556+14G>A | ||
| XR_427108.2:n.853+14G>A | ||
| XM_005246793.4:c.192+14G>A | XP_005246850.1:n.192+14G>A | |
| XM_005246794.4:c.-36+14G>A | XP_005246851.1:n.-36+14G>A | |
| XM_006712709.4:c.-36+14G>A | XP_006712772.1:n.-36+14G>A | |
| XM_006712710.4:c.-36+14G>A | XP_006712773.1:n.-36+14G>A | |
| XM_006712711.4:c.-55+14G>A | XP_006712774.1:n.-55+14G>A | |
| XM_011511684.3:c.-44+14G>A | XP_011509986.1:n.-44+14G>A | |
| XM_011511685.3:c.-44+14G>A | XP_011509987.1:n.-44+14G>A | |
| XM_017004765.2:c.270+14G>A | XP_016860254.1:n.270+14G>A | |
| XM_017004766.2:c.192+14G>A | XP_016860255.1:n.192+14G>A | |
| XM_017004767.2:c.393+14G>A | XP_016860256.1:n.393+14G>A | |
| XR_427107.3:n.542+14G>A | ||
| XR_427108.4:n.853+14G>A | ||
| NM_000578.4:c.393+14G>A MANE Select | NP_000569.3:n.393+14G>A |