gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3108585 (AFR)
Genomes Max Group AF
0.3108585 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997213G>A , CM000663.2:g.93997213G>A | GRCh38 |
| NC_000001.10:g.94462769G>A , CM000663.1:g.94462769G>A | GRCh37 |
| NC_000001.9:g.94235357G>A | NCBI36 |
| NG_009073.1:g.128937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6729+648C>T MANE Select | ENSP00000359245.3:n.6729+648C>T | |
| ENST00000370225.3:c.6729+648C>T | ENSP00000359245.3:n.6729+648C>T | |
| ENST00000536513.5:c.3105+648C>T | ENSP00000439707.2:n.3105+648C>T | |
| NM_000350.2:c.6729+648C>T | NP_000341.2:n.6729+648C>T | |
| NM_000350.3:c.6729+648C>T MANE Select | NP_000341.2:n.6729+648C>T |