Linked Data
dbSNP Id:
rs542947562
ExAC:
17:7989492 A / G
gnomAD v2:
17-7989492-A-G
gnomAD v3:
17-8086174-A-G
gnomAD v4:
17-8086174-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086174A>G , CM000679.2:g.8086174A>G | GRCh38 |
| NC_000017.10:g.7989492A>G , CM000679.1:g.7989492A>G | GRCh37 |
| NC_000017.9:g.7930217A>G | NCBI36 |
| NG_007099.1:g.6530T>C | |
| NG_007099.2:g.6543T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.194T>C MANE Select | ENSP00000497784.1:p.Ile65Thr | |
| ENST00000319144.4:c.194T>C | ENSP00000315167.4:p.Ile65Thr | |
| NM_001139.2:c.194T>C | NP_001130.1:p.Ile65Thr | |
| NM_001139.3:c.194T>C MANE Select | NP_001130.1:p.Ile65Thr |