Linked Data
ClinVar Variation Id:
427116
ClinVar RCV Id:
RCV000489140
dbSNP Id:
rs1085307967
gnomAD v4:
13-110161249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110161249G>A , CM000675.2:g.110161249G>A | GRCh38 |
| NC_000013.10:g.110813596G>A , CM000675.1:g.110813596G>A | GRCh37 |
| NC_000013.9:g.109611597G>A | NCBI36 |
| NG_011544.2:g.150901C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.4583C>T MANE Select | ENSP00000364979.4:p.Pro1528Leu | |
| ENST00000649720.1:n.751C>T | ||
| ENST00000650424.1:c.739C>T | ||
| ENST00000375820.8:c.4583C>T | ENSP00000364979.4:p.Pro1528Leu | |
| ENST00000467182.1:n.362C>T | ||
| NM_001845.5:c.4583C>T | NP_001836.3:p.Pro1528Leu | |
| XM_011521048.1:c.4391C>T | XP_011519350.1:p.Pro1464Leu | |
| XM_011521048.2:c.4391C>T | XP_011519350.1:p.Pro1464Leu | |
| NM_001845.6:c.4583C>T MANE Select | NP_001836.3:p.Pro1528Leu |