Linked Data
ClinVar Variation Id:
523048
ClinVar RCV Id:
RCV000626254
dbSNP Id:
rs777493612
gnomAD v4:
19-17826861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826861G>A , CM000681.2:g.17826861G>A | GRCh38 |
| NC_000019.9:g.17937670G>A , CM000681.1:g.17937670G>A | GRCh37 |
| NC_000019.8:g.17798670G>A | NCBI36 |
| NG_007273.1:g.26131C>T , LRG_77:g.26131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1814C>T | ENSP00000513006.1:n.*1814C>T | |
| ENST00000696967.1:n.2434C>T | ||
| ENST00000696968.1:n.490C>T | ||
| ENST00000696969.1:n.2214C>T | ||
| ENST00000458235.7:c.3257C>T MANE Select | ENSP00000391676.1:p.Pro1086Leu | |
| ENST00000458235.5:c.3257C>T | ENSP00000391676.1:p.Pro1086Leu | |
| ENST00000527031.5:n.2279-1551C>T | ||
| ENST00000527670.5:c.3257C>T | ENSP00000432511.1:p.Pro1086Leu | |
| NM_000215.3:c.3257C>T , LRG_77t1:c.3257C>T | NP_000206.2:p.Pro1086Leu | |
| XM_005259896.2:c.3386C>T | XP_005259953.1:p.Pro1129Leu | |
| XM_006722745.2:c.3257C>T | XP_006722808.1:p.Pro1086Leu | |
| XM_005259896.3:c.3386C>T | XP_005259953.1:p.Pro1129Leu | |
| NM_000215.4:c.3257C>T MANE Select | NP_000206.2:p.Pro1086Leu |