Linked Data
ClinVar Variation Id:
212404
dbSNP Id:
rs149888762
ExAC:
16:75573952 C / T
gnomAD v2:
16-75573952-C-T
gnomAD v3:
16-75540054-C-T
gnomAD v4:
16-75540054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540054C>T , CM000678.2:g.75540054C>T | GRCh38 |
| NC_000016.9:g.75573952C>T , CM000678.1:g.75573952C>T | GRCh37 |
| NC_000016.8:g.74131453C>T | NCBI36 |
| NG_029853.1:g.117G>A | |
| NG_033109.1:g.21233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*525G>A | ENSP00000510128.1:n.*525G>A | |
| ENST00000686680.1:c.576G>A | ENSP00000508892.1:p.Val192= | |
| ENST00000688195.1:c.519G>A | ENSP00000510115.1:p.Val173= | |
| ENST00000688270.1:c.*212G>A | ENSP00000509823.1:n.*212G>A | |
| ENST00000688618.1:c.*718G>A | ENSP00000509271.1:n.*718G>A | |
| ENST00000689040.1:c.*998G>A | ENSP00000508573.1:n.*998G>A | |
| ENST00000692097.1:c.*642G>A | ENSP00000509668.1:n.*642G>A | |
| ENST00000692689.1:c.543G>A | ENSP00000509732.1:p.Val181= | |
| ENST00000693457.1:c.*1116G>A | ENSP00000508414.1:n.*1116G>A | |
| ENST00000693682.1:c.*535G>A | ENSP00000508670.1:n.*535G>A | |
| ENST00000258173.11:c.891G>A MANE Select | ENSP00000258173.5:p.Val297= | |
| ENST00000258173.10:c.891G>A | ENSP00000258173.5:p.Val297= | |
| ENST00000460606.1:c.159+2548G>A | ||
| ENST00000562410.5:c.*693G>A | ENSP00000454582.1:n.*693G>A | |
| ENST00000564318.1:n.816G>A | ||
| ENST00000565067.5:c.747G>A | ENSP00000457254.1:p.Val249= | |
| ENST00000568377.5:c.978G>A | ENSP00000476267.1:p.Val326= | |
| ENST00000570006.5:c.*271G>A | ENSP00000455520.1:n.*271G>A | |
| NM_001077416.2:c.1050G>A | NP_001070884.2:p.Val350= | |
| NM_001077418.2:c.891G>A | NP_001070886.1:p.Val297= | |
| NR_074083.1:n.1091G>A | ||
| NM_001077418.3:c.891G>A MANE Select | NP_001070886.1:p.Val297= | |
| NR_074083.2:n.1057G>A |