gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1935186T>C , CM000670.2:g.1935186T>C | GRCh38 |
| NC_000008.10:g.1883352T>C , CM000670.1:g.1883352T>C | GRCh37 |
| NC_000008.9:g.1870759T>C | NCBI36 |
| NG_008480.1:g.116204T>C , LRG_234:g.116204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.3222+1244T>C MANE Select | ENSP00000340297.3:n.3222+1244T>C | |
| ENST00000635773.1:c.3750+1244T>C | ||
| ENST00000635855.1:c.*3176+1244T>C | ENSP00000489726.1:n.*3176+1244T>C | |
| ENST00000349830.7:c.3222+1244T>C | ENSP00000340297.3:n.3222+1244T>C | |
| ENST00000398564.5:c.3297+1244T>C | ENSP00000381571.1:n.3297+1244T>C | |
| ENST00000518288.5:c.3294+1244T>C | ENSP00000431012.1:n.3294+1244T>C | |
| ENST00000520359.5:c.3108+1244T>C | ENSP00000427909.1:n.3108+1244T>C | |
| ENST00000522435.5:c.2154+1244T>C | ENSP00000427768.1:n.2154+1244T>C | |
| NM_001308152.1:c.3108+1244T>C | NP_001295081.1:n.3108+1244T>C | |
| NM_001308153.1:c.3294+1244T>C | NP_001295082.1:n.3294+1244T>C | |
| NM_014629.2:c.3222+1244T>C , LRG_234t1:c.3222+1244T>C | NP_055444.2:n.3222+1244T>C | |
| NM_014629.3:c.3222+1244T>C | NP_055444.2:n.3222+1244T>C | |
| XM_005266041.2:c.3225+1244T>C | XP_005266098.1:n.3225+1244T>C | |
| XM_011534766.1:c.3138+1244T>C | XP_011533068.1:n.3138+1244T>C | |
| XM_011534767.1:c.3105+1244T>C | XP_011533069.1:n.3105+1244T>C | |
| XM_011534768.1:c.3225+1244T>C | XP_011533070.1:n.3225+1244T>C | |
| XM_011534769.1:c.3180+1244T>C | XP_011533071.1:n.3180+1244T>C | |
| XM_011534770.1:c.3225+1244T>C | XP_011533072.1:n.3225+1244T>C | |
| XR_110093.3:n.3031A>G | ||
| XM_005266041.4:c.3225+1244T>C | XP_005266098.1:n.3225+1244T>C | |
| XM_011534767.2:c.3105+1244T>C | XP_011533069.1:n.3105+1244T>C | |
| XM_011534770.2:c.3225+1244T>C | XP_011533072.1:n.3225+1244T>C | |
| XM_017014003.1:c.3297+1244T>C | XP_016869492.1:n.3297+1244T>C | |
| XM_024447334.1:c.3225+1244T>C | XP_024303102.1:n.3225+1244T>C | |
| XM_024447335.1:c.3309+1244T>C | XP_024303103.1:n.3309+1244T>C | |
| XR_110093.5:n.7660A>G | ||
| NM_014629.4:c.3222+1244T>C MANE Select | NP_055444.2:n.3222+1244T>C | |
| NM_001308152.2:c.3108+1244T>C | NP_001295081.1:n.3108+1244T>C | |
| NM_001308153.2:c.3294+1244T>C | NP_001295082.1:n.3294+1244T>C |