ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677440C>T , CM000671.2:g.136677440C>T | GRCh38 |
| NC_000009.11:g.139571892C>T , CM000671.1:g.139571892C>T | GRCh37 |
| NC_000009.10:g.138691713C>T | NCBI36 |
| NG_008090.1:g.15020G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.299G>A MANE Select | ENSP00000360761.2:p.Ser100Asn | |
| ENST00000371694.7:c.299G>A | ENSP00000360759.3:p.Ser100Asn | |
| ENST00000371696.6:c.299G>A | ENSP00000360761.2:p.Ser100Asn | |
| ENST00000470861.1:n.307G>A | ||
| ENST00000538402.1:c.299G>A | ENSP00000438919.1:p.Ser100Asn | |
| NM_001012727.1:c.299G>A | NP_001012745.1:p.Ser100Asn | |
| NM_006412.3:c.299G>A | NP_006403.2:p.Ser100Asn | |
| NM_006412.4:c.299G>A MANE Select | NP_006403.2:p.Ser100Asn | |
| NM_001012727.2:c.299G>A | NP_001012745.1:p.Ser100Asn |