Linked Data
ClinVar Variation Id:
198151
ClinVar RCV Id:
RCV000188651
RCV000475753
RCV000515415
RCV000710181
RCV001119511
RCV001847818
RCV002317054
RCV003985741
dbSNP Id:
rs145289229
ExAC:
15:89871763 G / C
gnomAD v2:
15-89871763-G-C
gnomAD v3:
15-89328532-G-C
gnomAD v4:
15-89328532-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328532G>C , CM000677.2:g.89328532G>C | GRCh38 |
| NC_000015.9:g.89871763G>C , CM000677.1:g.89871763G>C | GRCh37 |
| NC_000015.8:g.87672767G>C | NCBI36 |
| NG_008218.1:g.11264C>G | |
| NG_008218.2:g.11264C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1174C>G | ENSP00000516154.1:p.Leu392Val | |
| ENST00000268124.11:c.1174C>G MANE Select | ENSP00000268124.5:p.Leu392Val | |
| ENST00000530292.3:c.775C>G | ENSP00000432885.2:p.Leu259Val | |
| ENST00000635986.2:c.1174C>G | ENSP00000490653.2:p.Leu392Val | |
| ENST00000636774.1:c.1174C>G | ENSP00000489799.1:p.Leu392Val | |
| ENST00000637264.1:c.246C>G | ||
| ENST00000666746.1:c.827+153C>G | ||
| ENST00000672071.1:n.1372C>G | ||
| ENST00000672923.2:n.171C>G | ||
| ENST00000268124.9:c.1174C>G | ENSP00000268124.5:p.Leu392Val | |
| ENST00000442287.6:c.1174C>G | ENSP00000399851.2:p.Leu392Val | |
| ENST00000532363.2:n.32C>G | ||
| ENST00000631044.2:c.*557C>G | ENSP00000486730.1:n.*557C>G | |
| NM_001126131.1:c.1174C>G | NP_001119603.1:p.Leu392Val | |
| NM_002693.2:c.1174C>G | NP_002684.1:p.Leu392Val | |
| NM_001126131.2:c.1174C>G | NP_001119603.1:p.Leu392Val | |
| NM_002693.3:c.1174C>G MANE Select | NP_002684.1:p.Leu392Val |