Linked Data
dbSNP Id:
rs762167893
ExAC:
9:123725242 C / A
gnomAD v2:
9-123725242-C-A
gnomAD v3:
9-120962964-C-A
gnomAD v4:
9-120962964-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962964C>A , CM000671.2:g.120962964C>A | GRCh38 |
| NC_000009.11:g.123725242C>A , CM000671.1:g.123725242C>A | GRCh37 |
| NC_000009.10:g.122765063C>A | NCBI36 |
| NG_007364.1:g.92313G>T , LRG_28:g.92313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1361G>T | ||
| ENST00000696279.1:c.4647G>T | ||
| ENST00000696280.1:n.4416G>T | ||
| ENST00000696281.1:c.4345G>T | ENSP00000512521.1:p.Val1449Leu | |
| ENST00000697921.1:n.3205G>T | ||
| ENST00000697922.1:c.*4317G>T | ENSP00000513478.1:n.*4317G>T | |
| ENST00000697923.1:n.4772G>T | ||
| ENST00000223642.3:c.4327G>T MANE Select | ENSP00000223642.1:p.Val1443Leu | |
| ENST00000223642.2:c.4327G>T | ENSP00000223642.1:p.Val1443Leu | |
| NM_001735.2:c.4327G>T , LRG_28t1:c.4327G>T | NP_001726.2:p.Val1443Leu | |
| XM_011518980.1:c.4342G>T | XP_011517282.1:p.Val1448Leu | |
| NM_001317163.1:c.4345G>T | NP_001304092.1:p.Val1449Leu | |
| NM_001317163.2:c.4345G>T | NP_001304092.1:p.Val1449Leu | |
| NM_001735.3:c.4327G>T MANE Select | NP_001726.2:p.Val1443Leu |