Linked Data
ClinVar Variation Id:
2169211
ClinVar RCV Id:
RCV003100558
dbSNP Id:
rs773322250
ExAC:
11:68574942 A / G
gnomAD v2:
11-68574942-A-G
gnomAD v4:
11-68807474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68807474A>G , CM000673.2:g.68807474A>G | GRCh38 |
| NC_000011.9:g.68574942A>G , CM000673.1:g.68574942A>G | GRCh37 |
| NC_000011.8:g.68331518A>G | NCBI36 |
| NG_011801.1:g.39458T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.446T>C MANE Select | ENSP00000265641.4:p.Ile149Thr | |
| ENST00000265641.9:c.446T>C | ENSP00000265641.4:p.Ile149Thr | |
| ENST00000376618.6:c.446T>C | ENSP00000365803.2:p.Ile149Thr | |
| ENST00000539743.5:c.446T>C | ENSP00000446108.1:p.Ile149Thr | |
| ENST00000540367.5:c.446T>C | ENSP00000439084.1:p.Ile149Thr | |
| NM_001031847.2:c.446T>C | NP_001027017.1:p.Ile149Thr | |
| NM_001876.3:c.446T>C | NP_001867.2:p.Ile149Thr | |
| XM_005273762.1:c.542T>C | XP_005273819.1:p.Ile181Thr | |
| XM_005273763.1:c.542T>C | XP_005273820.1:p.Ile181Thr | |
| XM_005273762.3:c.542T>C | XP_005273819.1:p.Ile181Thr | |
| XM_017017220.1:c.446T>C | XP_016872709.1:p.Ile149Thr | |
| NM_001876.4:c.446T>C MANE Select | NP_001867.2:p.Ile149Thr | |
| NM_001031847.3:c.446T>C | NP_001027017.1:p.Ile149Thr |