Linked Data
ClinVar Variation Id:
1436118
dbSNP Id:
rs1370844431
gnomAD v2:
1-120458434-A-G
gnomAD v3:
1-119915811-A-G
gnomAD v4:
1-119915811-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915811A>G , CM000663.2:g.119915811A>G | GRCh38 |
| NC_000001.10:g.120458434A>G , CM000663.1:g.120458434A>G | GRCh37 |
| NC_000001.9:g.120259957A>G | NCBI36 |
| NG_008163.1:g.158843T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.6911T>C MANE Select | ENSP00000256646.2:p.Ile2304Thr | |
| ENST00000256646.6:c.6911T>C | ENSP00000256646.2:p.Ile2304Thr | |
| NM_024408.3:c.6911T>C | NP_077719.2:p.Ile2304Thr | |
| XM_005270901.2:c.6794T>C | XP_005270958.1:p.Ile2265Thr | |
| XM_011541519.1:c.6899T>C | XP_011539821.1:p.Ile2300Thr | |
| XM_011541520.1:c.6794T>C | XP_011539822.1:p.Ile2265Thr | |
| NM_024408.4:c.6911T>C MANE Select | NP_077719.2:p.Ile2304Thr |