Linked Data
ClinVar Variation Id:
500113
dbSNP Id:
rs751840699
ExAC:
16:75589795 C / A
gnomAD v2:
16-75589795-C-A
gnomAD v3:
16-75555897-C-A
gnomAD v4:
16-75555897-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75555897C>A , CM000678.2:g.75555897C>A | GRCh38 |
| NC_000016.9:g.75589795C>A , CM000678.1:g.75589795C>A | GRCh37 |
| NC_000016.8:g.74147296C>A | NCBI36 |
| NG_033109.1:g.5390G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.216G>T | ENSP00000510128.1:p.Leu72= | |
| ENST00000686547.1:c.216G>T | ENSP00000508790.1:p.Leu72= | |
| ENST00000688270.1:c.216G>T | ENSP00000509823.1:p.Leu72= | |
| ENST00000688618.1:c.216G>T | ENSP00000509271.1:p.Leu72= | |
| ENST00000689040.1:c.216G>T | ENSP00000508573.1:p.Leu72= | |
| ENST00000692097.1:c.216G>T | ENSP00000509668.1:p.Leu72= | |
| ENST00000692215.1:n.259G>T | ||
| ENST00000693457.1:c.216G>T | ENSP00000508414.1:p.Leu72= | |
| ENST00000693682.1:c.216G>T | ENSP00000508670.1:p.Leu72= | |
| ENST00000258173.11:c.216G>T MANE Select | ENSP00000258173.5:p.Leu72= | |
| ENST00000258173.10:c.216G>T | ENSP00000258173.5:p.Leu72= | |
| ENST00000561809.1:n.366G>T | ||
| ENST00000562410.5:c.216G>T | ENSP00000454582.1:p.Leu72= | |
| ENST00000564576.1:n.252G>T | ||
| ENST00000565067.5:c.216G>T | ENSP00000457254.1:p.Leu72= | |
| ENST00000568377.5:c.303G>T | ENSP00000476267.1:p.Leu101= | |
| ENST00000570006.5:c.216G>T | ENSP00000455520.1:p.Leu72= | |
| ENST00000615437.1:c.29G>T | ||
| NM_001077416.2:c.375G>T | NP_001070884.2:p.Leu125= | |
| NM_001077418.2:c.216G>T | NP_001070886.1:p.Leu72= | |
| NR_074083.1:n.293G>T | ||
| NM_001077418.3:c.216G>T MANE Select | NP_001070886.1:p.Leu72= | |
| NR_074083.2:n.259G>T |