Linked Data
ClinVar Variation Id:
198056
dbSNP Id:
rs146849545
ExAC:
17:7910793 C / T
gnomAD v2:
17-7910793-C-T
gnomAD v3:
17-8007475-C-T
gnomAD v4:
17-8007475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8007475C>T , CM000679.2:g.8007475C>T | GRCh38 |
| NC_000017.10:g.7910793C>T , CM000679.1:g.7910793C>T | GRCh37 |
| NC_000017.9:g.7851518C>T | NCBI36 |
| NG_009092.1:g.9806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1513C>T MANE Select | ENSP00000254854.4:p.Leu505= | |
| ENST00000254854.4:c.1513C>T | ENSP00000254854.4:p.Leu505= | |
| NM_000180.3:c.1513C>T | NP_000171.1:p.Leu505= | |
| XM_011523816.1:c.1513C>T | XP_011522118.1:p.Leu505= | |
| NM_000180.4:c.1513C>T MANE Select | NP_000171.1:p.Leu505= |