gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19532754 (AFR)
Genomes Max Group AF
0.19409583 (AFR)
Exomes Max Group AF
0.19440538 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31321334C>T , CM000678.2:g.31321334C>T | GRCh38 |
| NC_000016.9:g.31332655C>T , CM000678.1:g.31332655C>T | GRCh37 |
| NC_000016.8:g.31240156C>T | NCBI36 |
| NG_011719.1:g.66368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.1801C>T MANE Select | ENSP00000441691.3:p.Leu601= | |
| ENST00000648685.1:c.1804C>T | ENSP00000496959.1:p.Leu602= | |
| ENST00000287497.12:c.1801C>T | ENSP00000287497.8:p.Leu601= | |
| ENST00000544665.7:c.1804C>T | ENSP00000441691.2:p.Leu602= | |
| ENST00000567031.1:c.454-3065C>T | ||
| NM_000632.3:c.1801C>T | NP_000623.2:p.Leu601= | |
| NM_001145808.1:c.1804C>T | NP_001139280.1:p.Leu602= | |
| XM_006721045.1:c.1801C>T | XP_006721108.1:p.Leu601= | |
| XM_011545850.1:c.1618C>T | XP_011544152.1:p.Leu540= | |
| XM_011545851.1:c.1804C>T | XP_011544153.1:p.Leu602= | |
| XR_950796.1:n.1894C>T | ||
| XM_011545850.2:c.1618C>T | XP_011544152.1:p.Leu540= | |
| XM_011545851.2:c.1804C>T | XP_011544153.1:p.Leu602= | |
| XM_017023216.1:c.1804C>T | XP_016878705.1:p.Leu602= | |
| NM_000632.4:c.1801C>T MANE Select | NP_000623.2:p.Leu601= | |
| NM_001145808.2:c.1804C>T | NP_001139280.1:p.Leu602= |