ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677118G>A , CM000671.2:g.136677118G>A | GRCh38 |
| NC_000009.11:g.139571570G>A , CM000671.1:g.139571570G>A | GRCh37 |
| NC_000009.10:g.138691391G>A | NCBI36 |
| NG_008090.1:g.15342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.335C>T MANE Select | ENSP00000360761.2:p.Pro112Leu | |
| ENST00000371694.7:c.335C>T | ENSP00000360759.3:p.Pro112Leu | |
| ENST00000371696.6:c.335C>T | ENSP00000360761.2:p.Pro112Leu | |
| ENST00000470861.1:n.629C>T | ||
| ENST00000472820.1:n.263C>T | ||
| ENST00000538402.1:c.335C>T | ENSP00000438919.1:p.Pro112Leu | |
| NM_001012727.1:c.335C>T | NP_001012745.1:p.Pro112Leu | |
| NM_006412.3:c.335C>T | NP_006403.2:p.Pro112Leu | |
| NM_006412.4:c.335C>T MANE Select | NP_006403.2:p.Pro112Leu | |
| NM_001012727.2:c.335C>T | NP_001012745.1:p.Pro112Leu |