gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002988 (EAS)
Exomes Max Group AF
0.00003462 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47612492C>A , CM000668.2:g.47612492C>A | GRCh38 |
| NC_000006.11:g.47580228C>A , CM000668.1:g.47580228C>A | GRCh37 |
| NC_000006.10:g.47688187C>A | NCBI36 |
| NG_008878.1:g.139704C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.1834C>A MANE Select | ENSP00000352264.5:p.Arg612= | |
| NM_012120.2:c.1834C>A | NP_036252.1:p.Arg612= | |
| XM_005248976.1:c.1822C>A | XP_005249033.1:p.Arg608= | |
| XM_005248977.2:c.1814+3188C>A | XP_005249034.1:n.1814+3188C>A | |
| XM_011514449.1:c.1687C>A | XP_011512751.1:p.Arg563= | |
| XM_011514449.2:c.1687C>A | XP_011512751.1:p.Arg563= | |
| NM_012120.3:c.1834C>A MANE Select | NP_036252.1:p.Arg612= |