ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00047131 (AFR)
Genomes Max Group AF
0.00035784 (AFR)
Exomes Max Group AF
0.00049335 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23630360C>T , CM000678.2:g.23630360C>T | GRCh38 |
| NC_000016.9:g.23641681C>T , CM000678.1:g.23641681C>T | GRCh37 |
| NC_000016.8:g.23549182C>T | NCBI36 |
| NG_007406.1:g.15998G>A , LRG_308:g.15998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1800G>A | ENSP00000460666.3:p.Leu600= | |
| ENST00000565038.2:c.212-1085G>A | ENSP00000459882.2:n.212-1085G>A | |
| ENST00000566069.6:c.1794G>A | ENSP00000459237.2:p.Leu598= | |
| ENST00000697377.2:c.1800G>A | ENSP00000513286.2:p.Leu600= | |
| ENST00000697379.2:c.1800G>A | ENSP00000513287.2:p.Leu600= | |
| ENST00000561514.2:c.909G>A | ENSP00000460666.2:p.Leu303= | |
| ENST00000697374.1:c.909G>A | ENSP00000513284.1:p.Leu303= | |
| ENST00000697375.1:n.3141G>A | ||
| ENST00000697376.1:c.909G>A | ENSP00000513285.1:p.Leu303= | |
| ENST00000697377.1:c.909G>A | ENSP00000513286.1:p.Leu303= | |
| ENST00000697378.1:n.2314G>A | ||
| ENST00000697379.1:c.909G>A | ENSP00000513287.1:p.Leu303= | |
| ENST00000697380.1:n.722G>A | ||
| ENST00000697381.1:n.489G>A | ||
| ENST00000697382.1:c.909G>A | ENSP00000513288.1:p.Leu303= | |
| ENST00000697383.1:c.49-1085G>A | ENSP00000513289.1:n.49-1085G>A | |
| ENST00000697384.1:n.1948G>A | ||
| ENST00000261584.9:c.1794G>A MANE Select | ENSP00000261584.4:p.Leu598= | |
| ENST00000261584.8:c.1794G>A | ENSP00000261584.4:p.Leu598= | |
| ENST00000565038.1:c.87-1085G>A | ||
| ENST00000568219.5:c.909G>A | ENSP00000454703.2:p.Leu303= | |
| NM_024675.3:c.1794G>A , LRG_308t1:c.1794G>A | NP_078951.2:p.Leu598= | |
| XM_011545946.1:c.1800G>A | XP_011544248.1:p.Leu600= | |
| XM_011545947.1:c.1800G>A | XP_011544249.1:p.Leu600= | |
| XM_011545948.1:c.909G>A | XP_011544250.1:p.Leu303= | |
| XR_950851.1:n.2590G>A | ||
| XM_011545946.2:c.1800G>A | XP_011544248.1:p.Leu600= | |
| XM_011545947.2:c.1800G>A | XP_011544249.1:p.Leu600= | |
| XM_011545948.2:c.909G>A | XP_011544250.1:p.Leu303= | |
| XM_017023671.1:c.1800G>A | XP_016879160.1:p.Leu600= | |
| XM_017023672.2:c.1794G>A | XP_016879161.1:p.Leu598= | |
| XM_017023673.2:c.1794G>A | XP_016879162.1:p.Leu598= | |
| NM_024675.4:c.1794G>A MANE Select | NP_078951.2:p.Leu598= |