ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103177653T>A , CM000673.2:g.103177653T>A | GRCh38 |
| NC_000011.9:g.103048382T>A , CM000673.1:g.103048382T>A | GRCh37 |
| NC_000011.8:g.102553592T>A | NCBI36 |
| NG_016423.1:g.73223T>A | |
| NG_016423.2:g.73223T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.5972T>A MANE Plus Clinical | ENSP00000497174.1:p.Met1991Lys | |
| ENST00000375735.7:c.5972T>A MANE Select | ENSP00000364887.2:p.Met1991Lys | |
| ENST00000649323.1:c.*3517T>A | ENSP00000497581.1:n.*3517T>A | |
| ENST00000650373.1:c.5972T>A | ENSP00000497174.1:p.Met1991Lys | |
| ENST00000334267.11:c.2205+43234T>A | ENSP00000334021.7:n.2205+43234T>A | |
| ENST00000375735.6:c.5972T>A | ENSP00000364887.2:p.Met1991Lys | |
| ENST00000398093.7:c.5972T>A | ENSP00000381167.3:p.Met1991Lys | |
| NM_001080463.1:c.5972T>A | NP_001073932.1:p.Met1991Lys | |
| NM_001377.2:c.5972T>A | NP_001368.2:p.Met1991Lys | |
| XM_006718903.2:c.5972T>A | XP_006718966.1:p.Met1991Lys | |
| XM_017018291.1:c.5972T>A | XP_016873780.1:p.Met1991Lys | |
| XM_017018292.1:c.5354T>A | XP_016873781.1:p.Met1785Lys | |
| XM_017018293.1:c.5972T>A | XP_016873782.1:p.Met1991Lys | |
| NM_001377.3:c.5972T>A MANE Select | NP_001368.2:p.Met1991Lys | |
| NM_001080463.2:c.5972T>A MANE Plus Clinical | NP_001073932.1:p.Met1991Lys |