Linked Data
ClinVar Variation Id:
475340
dbSNP Id:
rs61733980
ExAC:
16:31004734 C / T
gnomAD v2:
16-31004734-C-T
gnomAD v3:
16-30993413-C-T
gnomAD v4:
16-30993413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993413C>T , CM000678.2:g.30993413C>T | GRCh38 |
| NC_000016.9:g.31004734C>T , CM000678.1:g.31004734C>T | GRCh37 |
| NC_000016.8:g.30912235C>T | NCBI36 |
| NG_041829.1:g.22096G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.609G>A MANE Select | ENSP00000215095.5:p.Lys203= | |
| ENST00000565419.2:c.609G>A | ENSP00000455899.1:p.Lys203= | |
| ENST00000215095.9:c.609G>A | ENSP00000215095.5:p.Lys203= | |
| ENST00000565419.1:c.609G>A | ENSP00000455899.1:p.Lys203= | |
| ENST00000569638.5:c.357G>A | ENSP00000457067.1:p.Lys119= | |
| NM_052874.4:c.609G>A | NP_443106.1:p.Lys203= | |
| XM_017022893.1:c.591G>A | XP_016878382.1:p.Lys197= | |
| NM_052874.5:c.609G>A MANE Select | NP_443106.1:p.Lys203= |