Linked Data
ClinVar Variation Id:
559215
ClinVar RCV Id:
RCV000676496
dbSNP Id:
rs183132980
ExAC:
6:30891146 C / T
gnomAD v2:
6-30891146-C-T
gnomAD v3:
6-30923369-C-T
gnomAD v4:
6-30923369-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923369C>T , CM000668.2:g.30923369C>T | GRCh38 |
| NC_000006.11:g.30891146C>T , CM000668.1:g.30891146C>T | GRCh37 |
| NC_000006.10:g.30999125C>T | NCBI36 |
| NG_034224.1:g.14162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2330C>T | ENSP00000441000.2:p.Pro777Leu | |
| ENST00000672801.1:c.2324C>T | ENSP00000500615.1:p.Pro775Leu | |
| ENST00000676266.1:c.2330C>T MANE Select | ENSP00000502585.1:p.Pro777Leu | |
| ENST00000321897.9:c.2330C>T | ENSP00000316092.5:p.Pro777Leu | |
| ENST00000469358.5:n.2318C>T | ||
| ENST00000473916.1:n.41C>T | ||
| ENST00000476162.5:n.1117C>T | ||
| ENST00000477052.1:n.416C>T | ||
| ENST00000477288.5:n.4943C>T | ||
| ENST00000541562.5:c.2420C>T | ENSP00000441000.1:p.Pro807Leu | |
| ENST00000542001.5:c.2324C>T | ENSP00000438200.2:p.Pro775Leu | |
| ENST00000625423.2:c.1910C>T | ENSP00000485818.1:p.Pro637Leu | |
| NM_001167733.2:c.1910C>T | NP_001161205.1:p.Pro637Leu | |
| NM_001167734.1:c.2420C>T | NP_001161206.1:p.Pro807Leu | |
| NM_020442.5:c.2330C>T | NP_065175.4:p.Pro777Leu | |
| NM_001167733.3:c.1910C>T | NP_001161205.1:p.Pro637Leu | |
| NM_001167734.2:c.2420C>T | NP_001161206.1:p.Pro807Leu | |
| NM_020442.6:c.2330C>T MANE Select | NP_065175.4:p.Pro777Leu |