Linked Data
ClinVar Variation Id:
206421
dbSNP Id:
rs201221600
ExAC:
19:50370443 G / A
gnomAD v2:
19-50370443-G-A
gnomAD v3:
19-49867186-G-A
gnomAD v4:
19-49867186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49867186G>A , CM000681.2:g.49867186G>A | GRCh38 |
| NC_000019.9:g.50370443G>A , CM000681.1:g.50370443G>A | GRCh37 |
| NC_000019.8:g.55062255G>A | NCBI36 |
| NG_027717.1:g.5380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.19C>T MANE Select | ENSP00000323511.2:p.Pro7Ser | |
| ENST00000636214.1:c.19C>T | ENSP00000489983.1:p.Pro7Ser | |
| ENST00000636994.1:c.19C>T | ENSP00000490791.1:p.Pro7Ser | |
| ENST00000322344.7:c.19C>T | ENSP00000323511.2:p.Pro7Ser | |
| ENST00000593946.5:c.19C>T | ENSP00000468896.1:p.Pro7Ser | |
| ENST00000595792.1:n.125C>T | ||
| ENST00000596014.5:c.19C>T | ENSP00000472300.1:p.Pro7Ser | |
| ENST00000596726.3:c.19C>T | ENSP00000470887.2:p.Pro7Ser | |
| ENST00000598020.3:c.19C>T | ENSP00000470346.1:p.Pro7Ser | |
| ENST00000599543.3:c.19C>T | ENSP00000469848.2:p.Pro7Ser | |
| ENST00000600573.5:c.19C>T | ENSP00000469826.1:p.Pro7Ser | |
| ENST00000600910.5:c.19C>T | ENSP00000473137.1:p.Pro7Ser | |
| ENST00000626274.2:n.128C>T | ||
| ENST00000627232.2:c.19C>T | ENSP00000486037.1:p.Pro7Ser | |
| ENST00000629088.1:n.73C>T | ||
| ENST00000629179.1:n.183-2783C>T | ||
| ENST00000631020.2:c.19C>T | ENSP00000486707.1:p.Pro7Ser | |
| NM_007254.3:c.19C>T | NP_009185.2:p.Pro7Ser | |
| NM_007254.4:c.19C>T MANE Select | NP_009185.2:p.Pro7Ser |