Linked Data
ClinVar Variation Id:
861889
dbSNP Id:
rs367959489
ExAC:
15:89873437 G / C
gnomAD v2:
15-89873437-G-C
gnomAD v3:
15-89330206-G-C
gnomAD v4:
15-89330206-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330206G>C , CM000677.2:g.89330206G>C | GRCh38 |
| NC_000015.9:g.89873437G>C , CM000677.1:g.89873437G>C | GRCh37 |
| NC_000015.8:g.87674441G>C | NCBI36 |
| NG_008218.1:g.9590C>G | |
| NG_008218.2:g.9590C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.730C>G | ENSP00000516154.1:p.Leu244Val | |
| ENST00000268124.11:c.730C>G MANE Select | ENSP00000268124.5:p.Leu244Val | |
| ENST00000530292.3:c.331C>G | ENSP00000432885.2:p.Leu111Val | |
| ENST00000635986.2:c.730C>G | ENSP00000490653.2:p.Leu244Val | |
| ENST00000636774.1:c.730C>G | ENSP00000489799.1:p.Leu244Val | |
| ENST00000666746.1:c.387C>G | ||
| ENST00000672071.1:n.928C>G | ||
| ENST00000268124.9:c.730C>G | ENSP00000268124.5:p.Leu244Val | |
| ENST00000442287.6:c.730C>G | ENSP00000399851.2:p.Leu244Val | |
| ENST00000631044.2:c.*113C>G | ENSP00000486730.1:n.*113C>G | |
| NM_001126131.1:c.730C>G | NP_001119603.1:p.Leu244Val | |
| NM_002693.2:c.730C>G | NP_002684.1:p.Leu244Val | |
| NM_001126131.2:c.730C>G | NP_001119603.1:p.Leu244Val | |
| NM_002693.3:c.730C>G MANE Select | NP_002684.1:p.Leu244Val |