Linked Data
ClinVar Variation Id:
651063
ClinVar RCV Id:
RCV000806337
dbSNP Id:
rs566260573
ExAC:
16:30198162 T / C
gnomAD v2:
16-30198162-T-C
gnomAD v3:
16-30186841-T-C
gnomAD v4:
16-30186841-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186841T>C , CM000678.2:g.30186841T>C | GRCh38 |
| NC_000016.9:g.30198162T>C , CM000678.1:g.30198162T>C | GRCh37 |
| NC_000016.8:g.30105663T>C | NCBI36 |
| NG_023415.1:g.8237T>C , LRG_195:g.8237T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.428T>C | ||
| ENST00000219150.10:c.347T>C MANE Select | ENSP00000219150.6:p.Leu116Pro | |
| ENST00000219150.9:c.347T>C | ENSP00000219150.5:p.Leu116Pro | |
| ENST00000561815.5:c.455T>C | ENSP00000456756.1:p.Leu152Pro | |
| ENST00000563778.5:c.347T>C | ENSP00000456266.1:p.Leu116Pro | |
| ENST00000564768.1:n.160T>C | ||
| ENST00000565497.5:c.347T>C | ENSP00000456457.1:p.Leu116Pro | |
| ENST00000567034.5:n.815T>C | ||
| ENST00000568763.1:n.1659T>C | ||
| ENST00000568982.5:n.465T>C | ||
| ENST00000569203.5:c.347T>C | ENSP00000454752.1:p.Leu116Pro | |
| ENST00000569469.1:n.431+121T>C | ||
| ENST00000569970.1:c.347T>C | ENSP00000457509.1:p.Leu116Pro | |
| ENST00000570045.5:c.347T>C | ENSP00000455552.1:p.Leu116Pro | |
| ENST00000570244.5:c.224T>C | ENSP00000457332.1:p.Leu75Pro | |
| NM_001193333.2:c.347T>C | NP_001180262.1:p.Leu116Pro | |
| NM_007074.3:c.347T>C | NP_009005.1:p.Leu116Pro | |
| XM_011545714.1:c.347T>C | XP_011544016.1:p.Leu116Pro | |
| XM_011545714.2:c.347T>C | XP_011544016.1:p.Leu116Pro | |
| XM_017022885.2:c.347T>C | XP_016878374.1:p.Leu116Pro | |
| XM_017022886.1:c.347T>C | XP_016878375.1:p.Leu116Pro | |
| NM_007074.4:c.347T>C MANE Select | NP_009005.1:p.Leu116Pro | |
| NM_001193333.3:c.347T>C | NP_001180262.1:p.Leu116Pro |