Linked Data
ClinVar Variation Id:
962942
ClinVar RCV Id:
RCV001236888
dbSNP Id:
rs1567261889
gnomAD v2:
16-30764753-T-C
gnomAD v4:
16-30753432-T-C
MyVariant Identifiers:
chr16:g.30764753T>C (hg19)
chr16:g.30764753_30764754delinsCC (hg19)
chr16:g.30753432T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753432T>C , CM000678.2:g.30753432T>C | GRCh38 |
| NC_000016.9:g.30764753T>C , CM000678.1:g.30764753T>C | GRCh37 |
| NC_000016.8:g.30672254T>C | NCBI36 |
| NG_016616.1:g.10134T>C | |
| NG_016616.2:g.10134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.431T>C MANE Select | ENSP00000455607.1:p.Leu144Pro | |
| ENST00000328273.11:c.431T>C | ENSP00000329968.7:p.Leu144Pro | |
| ENST00000424889.7:c.431T>C | ENSP00000388571.3:p.Leu144Pro | |
| ENST00000561712.1:c.105T>C | ||
| ENST00000563588.5:c.431T>C | ENSP00000455607.1:p.Leu144Pro | |
| ENST00000563607.1:c.*103T>C | ENSP00000454641.1:n.*103T>C | |
| ENST00000563913.5:n.764T>C | ||
| ENST00000564838.5:n.805T>C | ||
| ENST00000565897.5:c.431T>C | ENSP00000457359.1:p.Leu144Pro | |
| ENST00000565924.5:c.431T>C | ENSP00000455091.1:p.Leu144Pro | |
| ENST00000569684.1:n.843T>C | ||
| NM_000294.2:c.431T>C | NP_000285.1:p.Leu144Pro | |
| NM_001172432.1:c.431T>C | NP_001165903.1:p.Leu144Pro | |
| NM_000294.3:c.431T>C MANE Select | NP_000285.1:p.Leu144Pro | |
| NM_001172432.2:c.431T>C | NP_001165903.1:p.Leu144Pro |