Linked Data
dbSNP Id:
rs769834951
ExAC:
14:77984389 G / T
gnomAD v2:
14-77984389-G-T
gnomAD v4:
14-77518046-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518046G>T , CM000676.2:g.77518046G>T | GRCh38 |
| NC_000014.8:g.77984389G>T , CM000676.1:g.77984389G>T | GRCh37 |
| NC_000014.7:g.77054142G>T | NCBI36 |
| NG_028282.1:g.103722C>A , LRG_371:g.103722C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.593C>A | ||
| ENST00000687688.1:n.1324C>A | ||
| ENST00000692906.1:n.1293C>A | ||
| ENST00000216484.7:c.1561C>A MANE Select | ENSP00000216484.2:p.Leu521Ile | |
| ENST00000216484.6:c.1561C>A | ENSP00000216484.2:p.Leu521Ile | |
| ENST00000556607.1:c.389C>A | ENSP00000451029.1:n.389C>A | |
| NM_004863.3:c.1561C>A , LRG_371t1:c.1561C>A | NP_004854.1:p.Leu521Ile | |
| NM_004863.4:c.1561C>A MANE Select | NP_004854.1:p.Leu521Ile |