Linked Data
ClinVar Variation Id:
205826
dbSNP Id:
rs759993423
ExAC:
1:160012144 A / G
gnomAD v2:
1-160012144-A-G
gnomAD v3:
1-160042354-A-G
gnomAD v4:
1-160042354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042354A>G , CM000663.2:g.160042354A>G | GRCh38 |
| NC_000001.10:g.160012144A>G , CM000663.1:g.160012144A>G | GRCh37 |
| NC_000001.9:g.158278768A>G | NCBI36 |
| NG_016411.1:g.32818T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.151T>C | ||
| ENST00000636689.1:n.95-3006T>C | ||
| ENST00000637644.1:c.179T>C | ENSP00000490282.1:p.Ile60Thr | |
| ENST00000638728.1:c.179T>C | ENSP00000492619.1:p.Ile60Thr | |
| ENST00000638868.1:c.179T>C | ENSP00000491250.1:p.Ile60Thr | |
| ENST00000639408.1:c.179T>C | ENSP00000491635.1:p.Ile60Thr | |
| ENST00000640017.1:c.149T>C | ENSP00000491337.1:p.Ile50Thr | |
| ENST00000644903.1:c.179T>C MANE Select | ENSP00000495557.1:p.Ile60Thr | |
| ENST00000368089.3:c.179T>C | ENSP00000357068.3:p.Ile60Thr | |
| NM_002241.4:c.179T>C | NP_002232.2:p.Ile60Thr | |
| NM_002241.5:c.179T>C MANE Select | NP_002232.2:p.Ile60Thr |