gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37636381 (AFR)
Genomes Max Group AF
0.37636381 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90834586C>T , CM000672.2:g.90834586C>T | GRCh38 |
| NC_000010.10:g.92594343C>T , CM000672.1:g.92594343C>T | GRCh37 |
| NC_000010.9:g.92584323C>T | NCBI36 |
| NG_029218.1:g.28329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336152.8:c.539+22547G>A MANE Select | ENSP00000337949.3:n.539+22547G>A | |
| ENST00000277874.10:c.539+22547G>A | ENSP00000277874.6:n.539+22547G>A | |
| ENST00000336152.7:c.539+22547G>A | ENSP00000337949.3:n.539+22547G>A | |
| ENST00000371719.2:c.539+22547G>A | ENSP00000360784.2:n.539+22547G>A | |
| NM_000872.4:c.539+22547G>A | NP_000863.1:n.539+22547G>A | |
| NM_019859.3:c.539+22547G>A | NP_062873.1:n.539+22547G>A | |
| NM_019860.3:c.539+22547G>A | NP_062874.1:n.539+22547G>A | |
| NM_019859.4:c.539+22547G>A MANE Select | NP_062873.1:n.539+22547G>A | |
| NM_000872.5:c.539+22547G>A | NP_000863.1:n.539+22547G>A | |
| NM_019860.4:c.539+22547G>A | NP_062874.1:n.539+22547G>A |