Linked Data
ClinVar Variation Id:
1393758
ClinVar RCV Id:
RCV001898367
dbSNP Id:
rs368795933
ExAC:
3:119102005 T / C
gnomAD v2:
3-119102005-T-C
gnomAD v3:
3-119383158-T-C
gnomAD v4:
3-119383158-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119383158T>C , CM000665.2:g.119383158T>C | GRCh38 |
| NC_000003.11:g.119102005T>C , CM000665.1:g.119102005T>C | GRCh37 |
| NC_000003.10:g.120584695T>C | NCBI36 |
| NG_007665.2:g.93786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.614T>C MANE Select | ENSP00000264245.4:p.Ile205Thr | |
| ENST00000264245.8:c.614T>C | ENSP00000264245.4:p.Ile205Thr | |
| NM_020754.3:c.614T>C | NP_065805.2:p.Ile205Thr | |
| XM_005247671.3:c.521T>C | XP_005247728.1:p.Ile174Thr | |
| XM_006713714.2:c.614T>C | XP_006713777.1:p.Ile205Thr | |
| XM_006713714.3:c.614T>C | XP_006713777.1:p.Ile205Thr | |
| XM_017006955.1:c.122T>C | XP_016862444.1:p.Ile41Thr | |
| NM_020754.4:c.614T>C MANE Select | NP_065805.2:p.Ile205Thr |