Linked Data
ClinVar Variation Id:
99441
ClinVar RCV Id:
RCV000085800
RCV000277538
RCV000292818
RCV000332637
RCV000387042
RCV000408544
RCV001101661
RCV003888481
dbSNP Id:
rs61748519
ExAC:
1:94467441 G / A
gnomAD v2:
1-94467441-G-A
gnomAD v3:
1-94001885-G-A
gnomAD v4:
1-94001885-G-A
COSMIC:
COSM3997711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001885G>A , CM000663.2:g.94001885G>A | GRCh38 |
| NC_000001.10:g.94467441G>A , CM000663.1:g.94467441G>A | GRCh37 |
| NC_000001.9:g.94240029G>A | NCBI36 |
| NG_009073.1:g.124265C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6255C>T MANE Select | ENSP00000359245.3:p.Leu2085= | |
| ENST00000370225.3:c.6255C>T | ENSP00000359245.3:p.Leu2085= | |
| ENST00000465352.1:n.671C>T | ||
| ENST00000536513.5:c.2631C>T | ENSP00000439707.2:p.Leu877= | |
| NM_000350.2:c.6255C>T | NP_000341.2:p.Leu2085= | |
| NM_000350.3:c.6255C>T MANE Select | NP_000341.2:p.Leu2085= |