Linked Data
ClinVar Variation Id:
790982
ClinVar RCV Id:
RCV000973869
dbSNP Id:
rs41275699
ExAC:
4:100239268 A / G
gnomAD v2:
4-100239268-A-G
gnomAD v3:
4-99318111-A-G
gnomAD v4:
4-99318111-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318111A>G , CM000666.2:g.99318111A>G | GRCh38 |
| NC_000004.11:g.100239268A>G , CM000666.1:g.100239268A>G | GRCh37 |
| NC_000004.10:g.100458291A>G | NCBI36 |
| NG_011435.1:g.8305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.194T>C MANE Select | ENSP00000306606.8:p.Ile65Thr | |
| ENST00000639454.1:c.194T>C | ENSP00000491622.1:p.Ile65Thr | |
| ENST00000305046.12:c.194T>C | ENSP00000306606.8:p.Ile65Thr | |
| ENST00000504498.1:n.248T>C | ||
| ENST00000506651.5:c.74T>C | ENSP00000425998.2:p.Ile25Thr | |
| ENST00000515694.4:n.2289T>C | ||
| ENST00000625860.2:c.74T>C | ENSP00000486614.1:p.Ile25Thr | |
| ENST00000632775.1:n.757T>C | ||
| NM_000668.5:c.194T>C | NP_000659.2:p.Ile65Thr | |
| NM_001286650.1:c.74T>C | NP_001273579.1:p.Ile25Thr | |
| NM_000668.6:c.194T>C MANE Select | NP_000659.2:p.Ile65Thr | |
| NM_001286650.2:c.74T>C | NP_001273579.1:p.Ile25Thr |