gnomAD v4:
Joint Max Group AF
0.0000528 (AMR)
Genomes Max Group AF
0.0000528 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.146778238A>G , CM000669.2:g.146778238A>G | GRCh38 |
| NC_000007.13:g.146475330A>G , CM000669.1:g.146475330A>G | GRCh37 |
| NC_000007.12:g.146106263A>G | NCBI36 |
| NG_007092.2:g.666878A>G | |
| NG_007092.3:g.667238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.208+3857A>G MANE Select | ENSP00000354778.3:n.208+3857A>G | |
| ENST00000636277.1:n.75+3857A>G | ||
| ENST00000636561.1:n.111+3857A>G | ||
| ENST00000636600.1:n.58+3857A>G | ||
| ENST00000637150.1:n.137+3857A>G | ||
| ENST00000637694.1:n.111+3857A>G | ||
| ENST00000638117.1:n.111+3857A>G | ||
| ENST00000361727.7:c.208+3857A>G | ENSP00000354778.3:n.208+3857A>G | |
| ENST00000625365.2:c.208+3857A>G | ENSP00000485955.1:n.208+3857A>G | |
| NM_014141.5:c.208+3857A>G | NP_054860.1:n.208+3857A>G | |
| XM_017011950.2:c.208+3857A>G | XP_016867439.1:n.208+3857A>G | |
| NM_014141.6:c.208+3857A>G MANE Select | NP_054860.1:n.208+3857A>G |