gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004344 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53811005C>T , CM000681.2:g.53811005C>T | GRCh38 |
| NC_000019.9:g.54314259C>T , CM000681.1:g.54314259C>T | GRCh37 |
| NC_000019.8:g.59006071C>T | NCBI36 |
| NG_008651.1:g.18390G>A | |
| NG_008651.2:g.18390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.654G>A | ENSP00000375653.1:p.Ala218= | |
| ENST00000324134.11:c.654G>A MANE Select | ENSP00000319377.6:p.Ala218= | |
| ENST00000391773.6:c.654G>A | ENSP00000375653.1:p.Ala218= | |
| ENST00000324134.10:c.654G>A | ENSP00000319377.6:p.Ala218= | |
| ENST00000345770.9:c.654G>A | ENSP00000341428.5:p.Ala218= | |
| ENST00000391772.1:c.654G>A | ENSP00000375652.1:p.Ala218= | |
| ENST00000391773.5:c.654G>A | ENSP00000375653.1:p.Ala218= | |
| ENST00000391775.7:c.654G>A | ENSP00000375655.3:p.Ala218= | |
| NM_001277126.1:c.654G>A | NP_001264055.1:p.Ala218= | |
| NM_001277129.1:c.654G>A | NP_001264058.1:p.Ala218= | |
| NM_144687.3:c.654G>A | NP_653288.1:p.Ala218= | |
| XM_011527478.1:c.486G>A | XP_011525780.1:p.Ala162= | |
| XM_011527479.1:c.654G>A | XP_011525781.1:p.Ala218= | |
| XM_011527480.1:c.654G>A | XP_011525782.1:p.Ala218= | |
| XM_011527481.1:c.654G>A | XP_011525783.1:p.Ala218= | |
| XM_011527482.1:c.654G>A | XP_011525784.1:p.Ala218= | |
| XM_011527483.1:c.654G>A | XP_011525785.1:p.Ala218= | |
| XM_017027460.1:c.654G>A | XP_016882949.1:p.Ala218= | |
| XM_017027461.1:c.654G>A | XP_016882950.1:p.Ala218= | |
| XM_017027462.1:c.654G>A | XP_016882951.1:p.Ala218= | |
| XM_017027463.1:c.237G>A | XP_016882952.1:p.Ala79= | |
| XM_017027464.1:c.237G>A | XP_016882953.1:p.Ala79= | |
| XM_017027465.1:c.237G>A | XP_016882954.1:p.Ala79= | |
| XM_017027466.1:c.237G>A | XP_016882955.1:p.Ala79= | |
| XM_017027467.1:c.237G>A | XP_016882956.1:p.Ala79= | |
| NM_001277126.2:c.654G>A | NP_001264055.1:p.Ala218= | |
| NM_144687.4:c.654G>A MANE Select | NP_653288.1:p.Ala218= |