Linked Data
ClinVar Variation Id:
293086
dbSNP Id:
rs142986779
gnomAD v2:
1-160008704-C-T
gnomAD v3:
1-160038914-C-T
gnomAD v4:
1-160038914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160038914C>T , CM000663.2:g.160038914C>T | GRCh38 |
| NC_000001.10:g.160008704C>T , CM000663.1:g.160008704C>T | GRCh37 |
| NC_000001.9:g.158275328C>T | NCBI36 |
| NG_016411.1:g.36258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+2920G>A | ||
| ENST00000636689.1:n.529G>A | ||
| ENST00000637644.1:c.487+3132G>A | ENSP00000490282.1:n.487+3132G>A | |
| ENST00000638728.1:c.*2479G>A | ENSP00000492619.1:n.*2479G>A | |
| ENST00000638840.1:c.2607G>A | ||
| ENST00000638868.1:c.*2479G>A | ENSP00000491250.1:n.*2479G>A | |
| ENST00000639408.1:c.587+1588G>A | ENSP00000491635.1:n.587+1588G>A | |
| ENST00000640017.1:c.2357G>A | ENSP00000491337.1:n.2357G>A | |
| ENST00000640914.1:c.224+1588G>A | ||
| ENST00000644903.1:c.*2479G>A MANE Select | ENSP00000495557.1:n.*2479G>A | |
| ENST00000368089.3:c.*2479G>A | ENSP00000357068.3:n.*2479G>A | |
| NM_002241.4:c.*2479G>A | NP_002232.2:n.*2479G>A | |
| NM_002241.5:c.*2479G>A MANE Select | NP_002232.2:n.*2479G>A |