ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00567794 (NFE)
Genomes Max Group AF
0.00478672 (NFE)
Exomes Max Group AF
0.00570887 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103245271T>C , CM000673.2:g.103245271T>C | GRCh38 |
| NC_000011.9:g.103116000T>C , CM000673.1:g.103116000T>C | GRCh37 |
| NC_000011.8:g.102621210T>C | NCBI36 |
| NG_016423.1:g.140841T>C | |
| NG_016423.2:g.140841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.9960T>C MANE Plus Clinical | ENSP00000497174.1:p.Ala3320= | |
| ENST00000375735.7:c.9939T>C MANE Select | ENSP00000364887.2:p.Ala3313= | |
| ENST00000650373.1:c.9960T>C | ENSP00000497174.1:p.Ala3320= | |
| ENST00000334267.11:c.2205+110852T>C | ENSP00000334021.7:n.2205+110852T>C | |
| ENST00000375735.6:c.9939T>C | ENSP00000364887.2:p.Ala3313= | |
| ENST00000398093.7:c.9960T>C | ENSP00000381167.3:p.Ala3320= | |
| NM_001080463.1:c.9960T>C | NP_001073932.1:p.Ala3320= | |
| NM_001377.2:c.9939T>C | NP_001368.2:p.Ala3313= | |
| XM_006718903.2:c.9918T>C | XP_006718966.1:p.Ala3306= | |
| XM_017018291.1:c.9939T>C | XP_016873780.1:p.Ala3313= | |
| XM_017018292.1:c.9321T>C | XP_016873781.1:p.Ala3107= | |
| NM_001377.3:c.9939T>C MANE Select | NP_001368.2:p.Ala3313= | |
| NM_001080463.2:c.9960T>C MANE Plus Clinical | NP_001073932.1:p.Ala3320= |