Linked Data
ClinVar Variation Id:
334234
dbSNP Id:
rs151083083
ExAC:
2:215838687 A / G
gnomAD v2:
2-215838687-A-G
gnomAD v3:
2-214973963-A-G
gnomAD v4:
2-214973963-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214973963A>G , CM000664.2:g.214973963A>G | GRCh38 |
| NC_000002.11:g.215838687A>G , CM000664.1:g.215838687A>G | GRCh37 |
| NC_000002.10:g.215546932A>G | NCBI36 |
| NG_007074.1:g.169465T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.5548T>C MANE Select | ENSP00000272895.7:p.Ser1850Pro | |
| ENST00000272895.11:c.5548T>C | ENSP00000272895.7:p.Ser1850Pro | |
| ENST00000389661.4:c.4594T>C | ENSP00000374312.4:p.Ser1532Pro | |
| NM_015657.3:c.4594T>C | NP_056472.2:p.Ser1532Pro | |
| NM_173076.2:c.5548T>C | NP_775099.2:p.Ser1850Pro | |
| NR_103740.1:n.5848T>C | ||
| XM_011510951.1:c.5557T>C | XP_011509253.1:p.Ser1853Pro | |
| XM_011510952.1:c.5557T>C | XP_011509254.1:p.Ser1853Pro | |
| XM_011510951.2:c.5557T>C | XP_011509253.1:p.Ser1853Pro | |
| NM_173076.3:c.5548T>C MANE Select | NP_775099.2:p.Ser1850Pro | |
| NR_103740.2:n.6046T>C | ||
| NM_015657.4:c.4594T>C | NP_056472.2:p.Ser1532Pro |