Linked Data
ClinVar Variation Id:
627095
dbSNP Id:
rs377129476
ExAC:
1:169495234 A / G
gnomAD v2:
1-169495234-A-G
gnomAD v3:
1-169525996-A-G
gnomAD v4:
1-169525996-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169525996A>G , CM000663.2:g.169525996A>G | GRCh38 |
| NC_000001.10:g.169495234A>G , CM000663.1:g.169495234A>G | GRCh37 |
| NC_000001.9:g.167761858A>G | NCBI36 |
| NG_011806.1:g.65536T>C , LRG_553:g.65536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5621T>C MANE Select | ENSP00000356771.3:p.Met1874Thr | |
| ENST00000367796.3:c.5636T>C | ENSP00000356770.3:p.Met1879Thr | |
| ENST00000367797.7:c.5621T>C | ENSP00000356771.3:p.Met1874Thr | |
| NM_000130.4:c.5621T>C , LRG_553t1:c.5621T>C | NP_000121.2:p.Met1874Thr | |
| XM_017000660.2:c.5210T>C | XP_016856149.1:p.Met1737Thr | |
| NM_000130.5:c.5621T>C MANE Select | NP_000121.2:p.Met1874Thr |