ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055764 (EAS)
Genomes Max Group AF
0.00026289 (EAS)
Exomes Max Group AF
0.00054439 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103455224T>C , CM000673.2:g.103455224T>C | GRCh38 |
| NC_000011.9:g.103325952T>C , CM000673.1:g.103325952T>C | GRCh37 |
| NC_000011.8:g.102831162T>C | NCBI36 |
| NG_016423.1:g.350793T>C | |
| NG_016423.2:g.350794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.12516T>C MANE Plus Clinical | ENSP00000497174.1:p.Ser4172= | |
| ENST00000375735.7:c.12495T>C MANE Select | ENSP00000364887.2:p.Ser4165= | |
| ENST00000650373.1:c.12516T>C | ENSP00000497174.1:p.Ser4172= | |
| ENST00000334267.11:c.2334T>C | ENSP00000334021.7:p.Ser778= | |
| ENST00000375735.6:c.12495T>C | ENSP00000364887.2:p.Ser4165= | |
| ENST00000398093.7:c.12516T>C | ENSP00000381167.3:p.Ser4172= | |
| ENST00000528670.5:c.1678T>C | ENSP00000433451.1:n.1678T>C | |
| ENST00000530547.1:n.226T>C | ||
| ENST00000533197.1:c.246T>C | ENSP00000436736.1:p.Ser82= | |
| NM_001080463.1:c.12516T>C | NP_001073932.1:p.Ser4172= | |
| NM_001377.2:c.12495T>C | NP_001368.2:p.Ser4165= | |
| XM_006718903.2:c.12474T>C | XP_006718966.1:p.Ser4158= | |
| XM_017018291.1:c.12285T>C | XP_016873780.1:p.Ser4095= | |
| XM_017018292.1:c.11877T>C | XP_016873781.1:p.Ser3959= | |
| NM_001377.3:c.12495T>C MANE Select | NP_001368.2:p.Ser4165= | |
| NM_001080463.2:c.12516T>C MANE Plus Clinical | NP_001073932.1:p.Ser4172= |