Linked Data
ClinVar Variation Id:
655
ClinVar RCV Id:
RCV000000689
dbSNP Id:
rs118203911
gnomAD v4:
1-169552693-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552693A>G , CM000663.2:g.169552693A>G | GRCh38 |
| NC_000001.10:g.169521931A>G , CM000663.1:g.169521931A>G | GRCh37 |
| NC_000001.9:g.167788555A>G | NCBI36 |
| NG_011806.1:g.38839T>C , LRG_553:g.38839T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.1160T>C MANE Select | ENSP00000356771.3:p.Ile387Thr | |
| ENST00000367796.3:c.1160T>C | ENSP00000356770.3:p.Ile387Thr | |
| ENST00000367797.7:c.1160T>C | ENSP00000356771.3:p.Ile387Thr | |
| NM_000130.4:c.1160T>C , LRG_553t1:c.1160T>C | NP_000121.2:p.Ile387Thr | |
| XM_017000660.2:c.749T>C | XP_016856149.1:p.Ile250Thr | |
| NM_000130.5:c.1160T>C MANE Select | NP_000121.2:p.Ile387Thr |