MyVariant.info:
GRCh38
chr8:g.139985033G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43755654 (AFR)
Genomes Max Group AF
0.43755654 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.139985033G>A , CM000670.2:g.139985033G>A | GRCh38 |
| NG_016478.2:g.478547C>T | |
| NG_016478.3:g.478547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438773.4:c.2810+3693C>T MANE Select | ENSP00000405060.3:n.2810+3693C>T | |
| ENST00000648948.2:c.2810+3693C>T | ENSP00000498020.1:n.2810+3693C>T | |
| ENST00000389328.8:c.3104+3693C>T | ENSP00000373979.4:n.3104+3693C>T | |
| ENST00000438773.2:c.2810+3693C>T | ENSP00000405060.2:n.2810+3693C>T | |
| ENST00000520857.5:c.2340+3693C>T | ||
| ENST00000521667.5:n.1215+3693C>T | ||
| ENST00000523777.5:n.419+3693C>T | ||
| ENST00000524162.5:n.236+3693C>T | ||
| NM_001160372.2:c.2810+3693C>T | NP_001153844.1:n.2810+3693C>T | |
| NM_031466.6:c.3104+3693C>T | NP_113654.4:n.3104+3693C>T | |
| XM_005251077.3:c.2810+3693C>T | XP_005251134.1:n.2810+3693C>T | |
| XM_011517326.1:c.3077+3693C>T | XP_011515628.1:n.3077+3693C>T | |
| XM_011517327.1:c.3104+3693C>T | XP_011515629.1:n.3104+3693C>T | |
| XM_011517328.1:c.3104+3693C>T | XP_011515630.1:n.3104+3693C>T | |
| XM_011517329.1:c.2198+3693C>T | XP_011515631.1:n.2198+3693C>T | |
| XM_011517330.1:c.1259+3693C>T | XP_011515632.1:n.1259+3693C>T | |
| XR_928355.1:n.3174+3693C>T | ||
| NM_001160372.3:c.2810+3693C>T | NP_001153844.1:n.2810+3693C>T | |
| NM_001321646.1:c.2783+3693C>T | NP_001308575.1:n.2783+3693C>T | |
| NM_031466.7:c.3104+3693C>T | NP_113654.4:n.3104+3693C>T | |
| XM_011517326.2:c.3077+3693C>T | XP_011515628.1:n.3077+3693C>T | |
| XM_011517328.2:c.3104+3693C>T | XP_011515630.1:n.3104+3693C>T | |
| XM_011517330.2:c.1259+3693C>T | XP_011515632.1:n.1259+3693C>T | |
| XM_017013894.2:c.1430+3693C>T | XP_016869383.1:n.1430+3693C>T | |
| XR_928355.2:n.3174+3693C>T | ||
| NM_001160372.4:c.2810+3693C>T MANE Select | NP_001153844.1:n.2810+3693C>T | |
| NM_001321646.2:c.2783+3693C>T | NP_001308575.1:n.2783+3693C>T | |
| NM_001374682.1:c.2831+3693C>T | NP_001361611.1:n.2831+3693C>T | |
| NM_001374683.1:c.2699+38904C>T | NP_001361612.1:n.2699+38904C>T | |
| NM_001374684.1:c.2666+3693C>T | NP_001361613.1:n.2666+3693C>T | |
| NM_031466.8:c.2810+3693C>T | NP_113654.5:n.2810+3693C>T | |
| NR_164662.1:n.2899+3693C>T |