ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759898T>G , CM000673.2:g.64759898T>G | GRCh38 |
| NC_000011.9:g.64527370T>G , CM000673.1:g.64527370T>G | GRCh37 |
| NC_000011.8:g.64283946T>G | NCBI36 |
| NG_013018.1:g.5818A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1A>C MANE Select | ENSP00000164139.3:p.Met1Leu | |
| ENST00000164139.3:c.1A>C | ENSP00000164139.3:p.Met1Leu | |
| ENST00000377432.7:c.1A>C | ENSP00000366650.3:p.Met1Leu | |
| NM_001164716.1:c.1A>C | NP_001158188.1:p.Met1Leu | |
| NM_005609.2:c.1A>C | NP_005600.1:p.Met1Leu | |
| NM_005609.3:c.1A>C | NP_005600.1:p.Met1Leu | |
| NM_005609.4:c.1A>C MANE Select | NP_005600.1:p.Met1Leu |