Linked Data
ClinVar Variation Id:
3129283
ClinVar RCV Id:
RCV004425149
dbSNP Id:
rs2051974689
gnomAD v3:
7-144187834-A-G
gnomAD v4:
7-144187834-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144187834A>G , CM000669.2:g.144187834A>G | GRCh38 |
| NC_000007.13:g.143884927A>G , CM000669.1:g.143884927A>G | GRCh37 |
| NC_000007.12:g.143515860A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688754.1:c.550T>C | ENSP00000510684.1:p.Ser184Pro | |
| ENST00000378115.3:c.550T>C MANE Select | ENSP00000367355.3:p.Ser184Pro | |
| ENST00000378115.2:c.550T>C | ENSP00000367355.2:p.Ser184Pro | |
| NM_001003702.2:c.550T>C | NP_001003702.2:p.Ser184Pro | |
| NM_001003702.3:c.550T>C MANE Select | NP_001003702.2:p.Ser184Pro | |
| NM_001368318.1:c.550T>C | NP_001355247.1:p.Ser184Pro |