Linked Data
ClinVar Variation Id:
64620
dbSNP Id:
rs397514754
gnomAD v4:
16-75540130-T-G
PubMed:
PMID:23349226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540130T>G , CM000678.2:g.75540130T>G | GRCh38 |
| NC_000016.9:g.75574028T>G , CM000678.1:g.75574028T>G | GRCh37 |
| NC_000016.8:g.74131529T>G | NCBI36 |
| NG_029853.1:g.41A>C | |
| NG_033109.1:g.21157A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685935.1:c.*514-65A>C | ENSP00000510128.1:n.*514-65A>C | |
| ENST00000686680.1:c.500A>C | ENSP00000508892.1:p.Gln167Pro | |
| ENST00000688195.1:c.443A>C | ENSP00000510115.1:p.Gln148Pro | |
| ENST00000688270.1:c.*136A>C | ENSP00000509823.1:n.*136A>C | |
| ENST00000688618.1:c.*642A>C | ENSP00000509271.1:n.*642A>C | |
| ENST00000689040.1:c.*922A>C | ENSP00000508573.1:n.*922A>C | |
| ENST00000692097.1:c.*566A>C | ENSP00000509668.1:n.*566A>C | |
| ENST00000692689.1:c.467A>C | ENSP00000509732.1:p.Gln156Pro | |
| ENST00000693457.1:c.*1040A>C | ENSP00000508414.1:n.*1040A>C | |
| ENST00000693682.1:c.*459A>C | ENSP00000508670.1:n.*459A>C | |
| ENST00000258173.11:c.815A>C MANE Select | ENSP00000258173.5:p.Gln272Pro | |
| ENST00000258173.10:c.815A>C | ENSP00000258173.5:p.Gln272Pro | |
| ENST00000460606.1:c.159+2472A>C | ||
| ENST00000562410.5:c.*617A>C | ENSP00000454582.1:n.*617A>C | |
| ENST00000564318.1:n.740A>C | ||
| ENST00000565067.5:c.671A>C | ENSP00000457254.1:p.Gln224Pro | |
| ENST00000568377.5:c.902A>C | ENSP00000476267.1:p.Gln301Pro | |
| ENST00000569294.1:n.559A>C | ||
| ENST00000570006.5:c.*195A>C | ENSP00000455520.1:n.*195A>C | |
| NM_001077416.2:c.974A>C | NP_001070884.2:p.Gln325Pro | |
| NM_001077418.2:c.815A>C | NP_001070886.1:p.Gln272Pro | |
| NR_074083.1:n.1015A>C | ||
| NM_001077418.3:c.815A>C MANE Select | NP_001070886.1:p.Gln272Pro | |
| NR_074083.2:n.981A>C |