Linked Data
dbSNP Id:
rs779317485
ExAC:
1:169511150 A / G
gnomAD v2:
1-169511150-A-G
gnomAD v3:
1-169541912-A-G
gnomAD v4:
1-169541912-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541912A>G , CM000663.2:g.169541912A>G | GRCh38 |
| NC_000001.10:g.169511150A>G , CM000663.1:g.169511150A>G | GRCh37 |
| NC_000001.9:g.167777774A>G | NCBI36 |
| NG_011806.1:g.49620T>C , LRG_553:g.49620T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3178T>C MANE Select | ENSP00000356771.3:p.Ser1060Pro | |
| ENST00000367796.3:c.3193T>C | ENSP00000356770.3:p.Ser1065Pro | |
| ENST00000367797.7:c.3178T>C | ENSP00000356771.3:p.Ser1060Pro | |
| NM_000130.4:c.3178T>C , LRG_553t1:c.3178T>C | NP_000121.2:p.Ser1060Pro | |
| XM_017000660.2:c.2767T>C | XP_016856149.1:p.Ser923Pro | |
| NM_000130.5:c.3178T>C MANE Select | NP_000121.2:p.Ser1060Pro |