Linked Data
ClinVar Variation Id:
2076425
ClinVar RCV Id:
RCV002972307
dbSNP Id:
rs199768195
ExAC:
16:75574076 T / C
gnomAD v2:
16-75574076-T-C
gnomAD v3:
16-75540178-T-C
gnomAD v4:
16-75540178-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540178T>C , CM000678.2:g.75540178T>C | GRCh38 |
| NC_000016.9:g.75574076T>C , CM000678.1:g.75574076T>C | GRCh37 |
| NC_000016.8:g.74131577T>C | NCBI36 |
| NG_033109.1:g.21109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-113A>G | ENSP00000510128.1:n.*514-113A>G | |
| ENST00000686680.1:c.456-4A>G | ENSP00000508892.1:n.456-4A>G | |
| ENST00000688195.1:c.399-4A>G | ENSP00000510115.1:n.399-4A>G | |
| ENST00000688270.1:c.*92-4A>G | ENSP00000509823.1:n.*92-4A>G | |
| ENST00000688618.1:c.*598-4A>G | ENSP00000509271.1:n.*598-4A>G | |
| ENST00000689040.1:c.*874A>G | ENSP00000508573.1:n.*874A>G | |
| ENST00000692097.1:c.*522-4A>G | ENSP00000509668.1:n.*522-4A>G | |
| ENST00000692689.1:c.423-4A>G | ENSP00000509732.1:n.423-4A>G | |
| ENST00000693457.1:c.*992A>G | ENSP00000508414.1:n.*992A>G | |
| ENST00000693682.1:c.*411A>G | ENSP00000508670.1:n.*411A>G | |
| ENST00000258173.11:c.771-4A>G MANE Select | ENSP00000258173.5:n.771-4A>G | |
| ENST00000258173.10:c.771-4A>G | ENSP00000258173.5:n.771-4A>G | |
| ENST00000460606.1:c.159+2424A>G | ||
| ENST00000562410.5:c.*573-4A>G | ENSP00000454582.1:n.*573-4A>G | |
| ENST00000564318.1:n.696-4A>G | ||
| ENST00000565067.5:c.627-4A>G | ENSP00000457254.1:n.627-4A>G | |
| ENST00000568377.5:c.858-4A>G | ENSP00000476267.1:n.858-4A>G | |
| ENST00000569294.1:n.515-4A>G | ||
| ENST00000570006.5:c.*151-4A>G | ENSP00000455520.1:n.*151-4A>G | |
| NM_001077416.2:c.930-4A>G | NP_001070884.2:n.930-4A>G | |
| NM_001077418.2:c.771-4A>G | NP_001070886.1:n.771-4A>G | |
| NR_074083.1:n.971-4A>G | ||
| NM_001077418.3:c.771-4A>G MANE Select | NP_001070886.1:n.771-4A>G | |
| NR_074083.2:n.937-4A>G |