Linked Data
ClinVar Variation Id:
99413
ClinVar RCV Id:
RCV000085768
RCV000211880
RCV000284620
RCV000375640
RCV000379050
RCV000339604
RCV001096228
RCV001195781
RCV003888479
dbSNP Id:
rs56142141
ExAC:
1:94473846 G / A
gnomAD v2:
1-94473846-G-A
gnomAD v3:
1-94008290-G-A
gnomAD v4:
1-94008290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008290G>A , CM000663.2:g.94008290G>A | GRCh38 |
| NC_000001.10:g.94473846G>A , CM000663.1:g.94473846G>A | GRCh37 |
| NC_000001.9:g.94246434G>A | NCBI36 |
| NG_009073.1:g.117860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5843C>T MANE Select | ENSP00000359245.3:p.Pro1948Leu | |
| ENST00000370225.3:c.5843C>T | ENSP00000359245.3:p.Pro1948Leu | |
| ENST00000465352.1:n.259C>T | ||
| ENST00000536513.5:c.2219C>T | ENSP00000439707.2:p.Pro740Leu | |
| NM_000350.2:c.5843C>T | NP_000341.2:p.Pro1948Leu | |
| NM_000350.3:c.5843C>T MANE Select | NP_000341.2:p.Pro1948Leu |