gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71874939 (MID)
Genomes Max Group AF
0.67198263 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60892336G>A , CM000664.2:g.60892336G>A | GRCh38 |
| NC_000002.11:g.61119471G>A , CM000664.1:g.61119471G>A | GRCh37 |
| NC_000002.10:g.60972975G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.153+511G>A | ENSP00000514191.1:n.153+511G>A | |
| ENST00000699192.1:c.153+511G>A | ENSP00000514192.1:n.153+511G>A | |
| ENST00000699193.1:c.153+511G>A | ENSP00000514193.1:n.153+511G>A | |
| ENST00000699194.1:n.104+511G>A | ||
| ENST00000394479.4:c.153+511G>A MANE Select | ENSP00000377989.4:n.153+511G>A | |
| ENST00000295025.12:c.153+511G>A | ENSP00000295025.7:n.153+511G>A | |
| ENST00000394479.3:c.153+511G>A | ENSP00000377989.3:n.153+511G>A | |
| NM_001291746.1:c.153+511G>A | NP_001278675.1:n.153+511G>A | |
| NM_002908.3:c.153+511G>A | NP_002899.1:n.153+511G>A | |
| XM_017004627.2:c.153+511G>A | XP_016860116.1:n.153+511G>A | |
| NM_001291746.2:c.153+511G>A MANE Select | NP_001278675.1:n.153+511G>A | |
| NM_002908.4:c.153+511G>A | NP_002899.1:n.153+511G>A |