ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00062701 (AFR)
Genomes Max Group AF
0.0004598 (AFR)
Exomes Max Group AF
0.00069721 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753975C>T , CM000673.2:g.64753975C>T | GRCh38 |
| NC_000011.9:g.64521447C>T , CM000673.1:g.64521447C>T | GRCh37 |
| NC_000011.8:g.64278023C>T | NCBI36 |
| NG_013018.1:g.11741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1143G>A MANE Select | ENSP00000164139.3:p.Leu381= | |
| ENST00000164139.3:c.1143G>A | ENSP00000164139.3:p.Leu381= | |
| ENST00000377432.7:c.879G>A | ENSP00000366650.3:p.Leu293= | |
| ENST00000460413.1:n.220G>A | ||
| NM_001164716.1:c.879G>A | NP_001158188.1:p.Leu293= | |
| NM_005609.2:c.1143G>A | NP_005600.1:p.Leu381= | |
| NM_005609.3:c.1143G>A | NP_005600.1:p.Leu381= | |
| NM_005609.4:c.1143G>A MANE Select | NP_005600.1:p.Leu381= |