Linked Data
ClinVar Variation Id:
1960895
ClinVar RCV Id:
RCV002715728
gnomAD v4:
16-84031953-C-T
MyVariant Identifiers:
chr16:g.84065558C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031953C>T , CM000678.2:g.84031953C>T | GRCh38 |
| NC_000016.9:g.84065558C>T , CM000678.1:g.84065558C>T | GRCh37 |
| NC_000016.8:g.82623059C>T | NCBI36 |
| NG_034136.1:g.15205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.546G>A MANE Select | ENSP00000299709.3:p.Leu182= | |
| ENST00000299709.7:c.546G>A | ENSP00000299709.3:p.Leu182= | |
| ENST00000568178.1:c.546G>A | ENSP00000457737.1:p.Leu182= | |
| NM_001080442.2:c.546G>A | NP_001073911.1:p.Leu182= | |
| XM_011522872.1:c.546G>A | XP_011521174.1:p.Leu182= | |
| XM_017022946.1:c.546G>A | XP_016878435.1:p.Leu182= | |
| NM_001080442.3:c.546G>A MANE Select | NP_001073911.1:p.Leu182= |