Linked Data
ClinVar Variation Id:
619424
ClinVar RCV Id:
RCV000758458
dbSNP Id:
rs1567186644
gnomAD v4:
15-89320956-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320956G>T , CM000677.2:g.89320956G>T | GRCh38 |
| NC_000015.9:g.89864187G>T , CM000677.1:g.89864187G>T | GRCh37 |
| NC_000015.8:g.87665191G>T | NCBI36 |
| NG_008218.1:g.18840C>A | |
| NG_008218.2:g.18840C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2791C>A | ENSP00000516154.1:p.Leu931Ile | |
| ENST00000268124.11:c.2791C>A MANE Select | ENSP00000268124.5:p.Leu931Ile | |
| ENST00000530292.3:c.2392C>A | ENSP00000432885.2:p.Leu798Ile | |
| ENST00000635986.2:c.2791C>A | ENSP00000490653.2:p.Leu931Ile | |
| ENST00000636774.1:c.*1358C>A | ENSP00000489799.1:n.*1358C>A | |
| ENST00000637238.1:c.1600C>A | ENSP00000490756.1:n.1600C>A | |
| ENST00000637264.1:c.1863C>A | ||
| ENST00000666746.1:c.2368C>A | ||
| ENST00000670281.1:c.800+1006C>A | ENSP00000499709.1:n.800+1006C>A | |
| ENST00000672071.1:n.2989C>A | ||
| ENST00000672923.2:n.2733C>A | ||
| ENST00000268124.9:c.2791C>A | ENSP00000268124.5:p.Leu931Ile | |
| ENST00000442287.6:c.2791C>A | ENSP00000399851.2:p.Leu931Ile | |
| ENST00000528881.2:c.388C>A | ||
| ENST00000530715.5:c.186-87C>A | ENSP00000431395.1:n.186-87C>A | |
| ENST00000631044.2:c.*2215C>A | ENSP00000486730.1:n.*2215C>A | |
| NM_001126131.1:c.2791C>A | NP_001119603.1:p.Leu931Ile | |
| NM_002693.2:c.2791C>A | NP_002684.1:p.Leu931Ile | |
| NM_001126131.2:c.2791C>A | NP_001119603.1:p.Leu931Ile | |
| NM_002693.3:c.2791C>A MANE Select | NP_002684.1:p.Leu931Ile |