Linked Data
ClinVar Variation Id:
3083702
ClinVar RCV Id:
RCV004376508
dbSNP Id:
rs570056995
gnomAD v3:
17-78425450-G-A
gnomAD v4:
17-78425450-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425450G>A , CM000679.2:g.78425450G>A | GRCh38 |
| NC_000017.10:g.76421531G>A , CM000679.1:g.76421531G>A | GRCh37 |
| NC_000017.9:g.73933126G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.13037C>T MANE Select | ENSP00000374490.6:p.Pro4346Leu | |
| ENST00000389840.6:c.13037C>T | ENSP00000374490.6:p.Pro4346Leu | |
| ENST00000585328.5:c.13022C>T | ENSP00000465516.1:p.Pro4341Leu | |
| ENST00000586052.5:n.6198C>T | ||
| ENST00000590227.5:n.2711C>T | ||
| ENST00000591369.5:c.4659C>T | ||
| NM_173628.3:c.13037C>T | NP_775899.3:p.Pro4346Leu | |
| XM_011525416.1:c.13049C>T | XP_011523718.1:p.Pro4350Leu | |
| XM_011525418.1:c.6416C>T | XP_011523720.1:p.Pro2139Leu | |
| XM_011525416.2:c.13049C>T | XP_011523718.1:p.Pro4350Leu | |
| XM_017025261.2:c.6383C>T | XP_016880750.1:p.Pro2128Leu | |
| XM_024451013.1:c.12905C>T | XP_024306781.1:p.Pro4302Leu | |
| NM_173628.4:c.13037C>T MANE Select | NP_775899.3:p.Pro4346Leu |