gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36936917G>A , CM000683.2:g.36936917G>A | GRCh38 |
| NC_000021.8:g.38309217G>A , CM000683.1:g.38309217G>A | GRCh37 |
| NC_000021.7:g.37231087G>A | NCBI36 |
| NG_016193.1:g.58320C>T | |
| NG_016193.2:g.58478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.969C>T MANE Select | ENSP00000502087.2:p.Leu323= | |
| ENST00000674895.2:c.528C>T | ENSP00000502087.1:p.Leu176= | |
| ENST00000675057.1:c.528C>T | ENSP00000501832.1:p.Leu176= | |
| ENST00000675307.1:c.528C>T | ENSP00000501750.1:p.Leu176= | |
| ENST00000336648.8:c.528C>T | ENSP00000338387.3:p.Leu176= | |
| ENST00000399120.5:c.528C>T | ENSP00000382071.1:p.Leu176= | |
| ENST00000612277.4:c.528C>T | ENSP00000479939.1:p.Leu176= | |
| NM_000411.6:c.528C>T | NP_000402.3:p.Leu176= | |
| NM_001242784.1:c.528C>T | NP_001229713.1:p.Leu176= | |
| NM_001242785.1:c.528C>T | NP_001229714.1:p.Leu176= | |
| XM_005260953.2:c.969C>T | XP_005261010.1:p.Leu323= | |
| XM_005260954.1:c.969C>T | XP_005261011.1:p.Leu323= | |
| XM_005260955.2:c.528C>T | XP_005261012.1:p.Leu176= | |
| XM_005260956.2:c.528C>T | XP_005261013.1:p.Leu176= | |
| XM_006723994.1:c.528C>T | XP_006724057.1:p.Leu176= | |
| XM_006723995.1:c.528C>T | XP_006724058.1:p.Leu176= | |
| XM_011529538.1:c.528C>T | XP_011527840.1:p.Leu176= | |
| XM_011529539.1:c.528C>T | XP_011527841.1:p.Leu176= | |
| XM_011529540.1:c.969C>T | XP_011527842.1:p.Leu323= | |
| XM_011529541.1:c.528C>T | XP_011527843.1:p.Leu176= | |
| XM_011529542.1:c.969C>T | XP_011527844.1:p.Leu323= | |
| NM_000411.7:c.528C>T | NP_000402.3:p.Leu176= | |
| NM_001242784.2:c.528C>T | NP_001229713.1:p.Leu176= | |
| NM_001242785.2:c.528C>T | NP_001229714.1:p.Leu176= | |
| NM_001352514.1:c.969C>T | NP_001339443.1:p.Leu323= | |
| NM_001352515.1:c.528C>T | NP_001339444.1:p.Leu176= | |
| NM_001352516.1:c.528C>T | NP_001339445.1:p.Leu176= | |
| NM_001352517.1:c.528C>T | NP_001339446.1:p.Leu176= | |
| NM_001352518.1:c.528C>T | NP_001339447.1:p.Leu176= | |
| NR_148020.1:n.1011C>T | ||
| NR_148021.1:n.985C>T | ||
| XM_011529539.3:c.528C>T | XP_011527841.1:p.Leu176= | |
| XM_011529540.2:c.969C>T | XP_011527842.1:p.Leu323= | |
| XM_017028330.1:c.528C>T | XP_016883819.1:p.Leu176= | |
| XM_024452065.1:c.357C>T | XP_024307833.1:p.Leu119= | |
| XM_024452066.1:c.357C>T | XP_024307834.1:p.Leu119= | |
| XR_001754835.1:n.970C>T | ||
| XR_001754836.1:n.970C>T | ||
| XR_001754837.2:n.970C>T | ||
| XR_001754840.1:n.970C>T | ||
| NM_000411.8:c.528C>T | NP_000402.3:p.Leu176= | |
| NM_001242784.3:c.528C>T | NP_001229713.1:p.Leu176= | |
| NM_001352514.2:c.969C>T MANE Select | NP_001339443.1:p.Leu323= | |
| NM_001352515.2:c.528C>T | NP_001339444.1:p.Leu176= | |
| NM_001352516.2:c.528C>T | NP_001339445.1:p.Leu176= | |
| NR_148020.2:n.828C>T | ||
| NM_001352518.2:c.528C>T | NP_001339447.1:p.Leu176= |