gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830634C>G , CM000674.2:g.101830634C>G | GRCh38 |
| NC_000012.11:g.102224412C>G , CM000674.1:g.102224412C>G | GRCh37 |
| NC_000012.10:g.100748543C>G | NCBI36 |
| NG_021243.1:g.5234G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.42G>C MANE Select | ENSP00000299314.7:p.Leu14= | |
| ENST00000647144.1:n.30G>C | ||
| ENST00000299314.11:c.42G>C | ENSP00000299314.7:p.Leu14= | |
| ENST00000392919.4:c.42G>C | ENSP00000376651.4:p.Leu14= | |
| ENST00000549165.1:c.42G>C | ENSP00000450413.1:p.Leu14= | |
| ENST00000549940.5:c.42G>C | ENSP00000449150.1:p.Leu14= | |
| NM_024312.4:c.42G>C | NP_077288.2:p.Leu14= | |
| XM_006719593.2:c.42G>C | XP_006719656.1:p.Leu14= | |
| XM_006719593.3:c.42G>C | XP_006719656.1:p.Leu14= | |
| XM_017019961.1:c.-108G>C | XP_016875450.1:n.-108G>C | |
| XM_017019962.2:c.-1309G>C | XP_016875451.1:n.-1309G>C | |
| NM_024312.5:c.42G>C MANE Select | NP_077288.2:p.Leu14= |