Linked Data
ClinVar Variation Id:
319153
dbSNP Id:
rs373300793
ExAC:
16:3639292 C / T
gnomAD v2:
16-3639292-C-T
gnomAD v3:
16-3589291-C-T
gnomAD v4:
16-3589291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589291C>T , CM000678.2:g.3589291C>T | GRCh38 |
| NC_000016.9:g.3639292C>T , CM000678.1:g.3639292C>T | GRCh37 |
| NC_000016.8:g.3579293C>T | NCBI36 |
| NG_028123.1:g.27294G>A , LRG_503:g.27294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4347G>A MANE Select | ENSP00000294008.3:p.Leu1449= | |
| ENST00000294008.3:c.4347G>A | ENSP00000294008.3:p.Leu1449= | |
| NM_032444.2:c.4347G>A , LRG_503t1:c.4347G>A | NP_115820.2:p.Leu1449= | |
| XM_011522715.1:c.4347G>A | XP_011521017.1:p.Leu1449= | |
| NM_032444.3:c.4347G>A | NP_115820.2:p.Leu1449= | |
| XM_011522715.3:c.4347G>A | XP_011521017.1:p.Leu1449= | |
| XM_017023775.2:c.3525G>A | XP_016879264.1:p.Leu1175= | |
| XM_024450471.1:c.4347G>A | XP_024306239.1:p.Leu1449= | |
| NM_032444.4:c.4347G>A MANE Select | NP_115820.2:p.Leu1449= |