Linked Data
ClinVar Variation Id:
1461953
dbSNP Id:
rs889224862
gnomAD v2:
3-164786868-A-G
gnomAD v4:
3-165069080-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069080A>G , CM000665.2:g.165069080A>G | GRCh38 |
| NC_000003.11:g.164786868A>G , CM000665.1:g.164786868A>G | GRCh37 |
| NC_000003.10:g.166269562A>G | NCBI36 |
| NG_017043.1:g.14416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.371T>C MANE Select | ENSP00000264382.3:p.Ile124Thr | |
| ENST00000264382.7:c.371T>C | ENSP00000264382.3:p.Ile124Thr | |
| ENST00000476593.1:c.*246T>C | ENSP00000419450.1:n.*246T>C | |
| NM_001041.3:c.371T>C | NP_001032.2:p.Ile124Thr | |
| XM_011513078.1:c.272T>C | XP_011511380.1:p.Ile91Thr | |
| XM_011513078.2:c.272T>C | XP_011511380.1:p.Ile91Thr | |
| NM_001041.4:c.371T>C MANE Select | NP_001032.2:p.Ile124Thr |