gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12054598 (MID)
Genomes Max Group AF
0.11265343 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31153649G>A , CM000668.2:g.31153649G>A | GRCh38 |
| NC_000006.11:g.31121426G>A , CM000668.1:g.31121426G>A | GRCh37 |
| NC_000006.10:g.31229405G>A | NCBI36 |
| NG_054878.1:g.9590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396268.8:c.801+847C>T MANE Select | ENSP00000379566.3:n.801+847C>T | |
| ENST00000652427.1:c.534+847C>T | ENSP00000498342.1:n.534+847C>T | |
| ENST00000652535.1:c.534+847C>T | ENSP00000498479.1:n.534+847C>T | |
| ENST00000376266.9:c.534+847C>T | ENSP00000365442.5:n.534+847C>T | |
| ENST00000396263.6:c.534+847C>T | ENSP00000379561.2:n.534+847C>T | |
| ENST00000396268.7:c.801+847C>T | ENSP00000379566.3:n.801+847C>T | |
| ENST00000448141.6:c.426+847C>T | ENSP00000414323.2:n.426+847C>T | |
| ENST00000448162.6:c.534+847C>T | ENSP00000390027.2:n.534+847C>T | |
| ENST00000451521.6:c.693+847C>T | ENSP00000401039.2:n.693+847C>T | |
| ENST00000464012.1:n.256+847C>T | ||
| ENST00000480060.5:n.92+3374C>T | ||
| ENST00000505392.5:n.310-2527C>T | ||
| ENST00000507459.5:c.231-2527C>T | ENSP00000421523.1:n.231-2527C>T | |
| ENST00000508683.5:c.426+847C>T | ENSP00000421393.1:n.426+847C>T | |
| ENST00000508852.5:c.231-2527C>T | ENSP00000422503.1:n.231-2527C>T | |
| ENST00000509552.5:n.675+847C>T | ||
| ENST00000512418.5:c.123-2527C>T | ENSP00000426883.1:n.123-2527C>T | |
| NM_001105563.1:c.693+847C>T | NP_001099033.1:n.693+847C>T | |
| NM_001105564.1:c.801+847C>T | NP_001099034.1:n.801+847C>T | |
| NM_019052.3:c.534+847C>T | NP_061925.2:n.534+847C>T | |
| XM_011514702.1:c.720+847C>T | XP_011513004.1:n.720+847C>T | |
| XM_011514703.1:c.534+847C>T | XP_011513005.1:n.534+847C>T | |
| XM_011514704.1:c.426+847C>T | XP_011513006.1:n.426+847C>T | |
| XM_011514705.1:c.426+847C>T | XP_011513007.1:n.426+847C>T | |
| XM_011514706.1:c.534+847C>T | XP_011513008.1:n.534+847C>T | |
| XM_011514702.2:c.720+847C>T | XP_011513004.1:n.720+847C>T | |
| XM_011514704.3:c.426+847C>T | XP_011513006.1:n.426+847C>T | |
| XM_017010961.1:c.828+847C>T | XP_016866450.1:n.828+847C>T | |
| XM_017010962.2:c.534+847C>T | XP_016866451.1:n.534+847C>T | |
| XM_017010963.1:c.534+847C>T | XP_016866452.1:n.534+847C>T | |
| XM_017010964.1:c.534+847C>T | XP_016866453.1:n.534+847C>T | |
| XM_017010965.1:c.534+847C>T | XP_016866454.1:n.534+847C>T | |
| XM_017010966.1:c.534+847C>T | XP_016866455.1:n.534+847C>T | |
| XM_017010967.1:c.534+847C>T | XP_016866456.1:n.534+847C>T | |
| XM_017010968.1:c.534+847C>T | XP_016866457.1:n.534+847C>T | |
| XM_017010969.1:c.426+847C>T | XP_016866458.1:n.426+847C>T | |
| XM_017010970.1:c.-294-2527C>T | XP_016866459.1:n.-294-2527C>T | |
| XM_024446473.1:c.612+847C>T | XP_024302241.1:n.612+847C>T | |
| NM_019052.4:c.534+847C>T | NP_061925.2:n.534+847C>T | |
| NM_001105563.2:c.693+847C>T | NP_001099033.1:n.693+847C>T | |
| NM_001105563.3:c.693+847C>T | NP_001099033.1:n.693+847C>T | |
| NM_001105564.2:c.801+847C>T MANE Select | NP_001099034.1:n.801+847C>T | |
| NM_001394641.1:c.828+847C>T | NP_001381570.1:n.828+847C>T | |
| NM_001394642.1:c.534+847C>T | NP_001381571.1:n.534+847C>T | |
| NM_001394643.1:c.534+847C>T | NP_001381572.1:n.534+847C>T | |
| NM_001394644.1:c.534+847C>T | NP_001381573.1:n.534+847C>T | |
| NM_001394646.1:c.534+847C>T | NP_001381575.1:n.534+847C>T | |
| NM_001394647.1:c.456+847C>T | NP_001381576.1:n.456+847C>T | |
| NM_001394648.1:c.426+847C>T | NP_001381577.1:n.426+847C>T | |
| NM_001394649.1:c.177+847C>T | NP_001381578.1:n.177+847C>T |