gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0019489 (AFR)
Genomes Max Group AF
0.00151971 (AFR)
Exomes Max Group AF
0.00224186 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73689500C>T , CM000676.2:g.73689500C>T | GRCh38 |
| NC_000014.8:g.74156203C>T , CM000676.1:g.74156203C>T | GRCh37 |
| NC_000014.7:g.73225956C>T | NCBI36 |
| NG_028083.1:g.49626C>T | |
| NG_028083.2:g.49626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.517C>T MANE Select | ENSP00000452037.1:p.Leu173= | |
| ENST00000311089.7:c.178C>T | ENSP00000310360.3:p.Leu60= | |
| ENST00000553645.6:c.517C>T | ENSP00000452037.1:p.Leu173= | |
| ENST00000554159.1:c.278+2115C>T | ENSP00000451264.1:n.278+2115C>T | |
| ENST00000554339.5:c.256C>T | ENSP00000450744.1:p.Leu86= | |
| ENST00000554871.5:c.400C>T | ENSP00000451834.1:p.Leu134= | |
| ENST00000555631.6:c.400C>T | ENSP00000451547.2:p.Leu134= | |
| ENST00000559993.1:c.178C>T | ENSP00000453439.1:p.Leu60= | |
| NM_001201366.1:c.400C>T | NP_001188295.1:p.Leu134= | |
| NM_031427.3:c.517C>T | NP_113615.2:p.Leu173= | |
| XM_011537204.1:c.400C>T | XP_011535506.1:p.Leu134= | |
| XM_017021679.2:c.400C>T | XP_016877168.1:p.Leu134= | |
| XM_024449715.1:c.400C>T | XP_024305483.1:p.Leu134= | |
| NM_031427.4:c.517C>T MANE Select | NP_113615.2:p.Leu173= | |
| NM_001201366.2:c.400C>T | NP_001188295.1:p.Leu134= |