dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58337813 (EAS)
Genomes Max Group AF
0.58337813 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102838056G>A , CM000673.2:g.102838056G>A | GRCh38 |
| NC_000011.9:g.102708787G>A , CM000673.1:g.102708787G>A | GRCh37 |
| NC_000011.8:g.102213997G>A | NCBI36 |
| NG_012100.1:g.10556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.1229+495C>T MANE Select | ENSP00000299855.5:n.1229+495C>T | |
| ENST00000299855.9:c.1229+495C>T | ENSP00000299855.5:n.1229+495C>T | |
| ENST00000434103.1:c.160+495C>T | ||
| NM_002422.3:c.1229+495C>T | NP_002413.1:n.1229+495C>T | |
| NM_002422.4:c.1229+495C>T | NP_002413.1:n.1229+495C>T | |
| NM_002422.5:c.1229+495C>T MANE Select | NP_002413.1:n.1229+495C>T |