Linked Data
ClinVar Variation Id:
203696
dbSNP Id:
rs139519507
ExAC:
19:51856483 G / A
gnomAD v2:
19-51856483-G-A
gnomAD v3:
19-51353229-G-A
gnomAD v4:
19-51353229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51353229G>A , CM000681.2:g.51353229G>A | GRCh38 |
| NC_000019.9:g.51856483G>A , CM000681.1:g.51856483G>A | GRCh37 |
| NC_000019.8:g.56548295G>A | NCBI36 |
| NG_007115.1:g.18190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.278C>T MANE Select | ENSP00000311930.3:p.Pro93Leu | |
| ENST00000309244.8:c.278C>T | ENSP00000311930.3:p.Pro93Leu | |
| ENST00000354232.8:c.551C>T | ENSP00000346173.3:p.Pro184Leu | |
| ENST00000593992.1:n.301C>T | ||
| ENST00000596253.1:c.216+921C>T | ENSP00000469628.1:n.216+921C>T | |
| ENST00000600067.1:c.*204C>T | ENSP00000469452.1:n.*204C>T | |
| NM_001014763.1:c.551C>T | NP_001014763.1:p.Pro184Leu | |
| NM_001985.2:c.278C>T | NP_001976.1:p.Pro93Leu | |
| XM_024451418.1:c.167C>T | XP_024307186.1:p.Pro56Leu | |
| NM_001985.3:c.278C>T MANE Select | NP_001976.1:p.Pro93Leu |