Linked Data
ClinVar Variation Id:
128251
dbSNP Id:
rs80027466
ExAC:
12:53708092 A / G
gnomAD v2:
12-53708092-A-G
gnomAD v3:
12-53314308-A-G
gnomAD v4:
12-53314308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53314308A>G , CM000674.2:g.53314308A>G | GRCh38 |
| NC_000012.11:g.53708092A>G , CM000674.1:g.53708092A>G | GRCh37 |
| NC_000012.10:g.51994359A>G | NCBI36 |
| NG_016775.1:g.12321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.679T>C MANE Select | ENSP00000209873.4:p.Leu227= | |
| ENST00000546393.7:n.1524T>C | ||
| ENST00000546562.6:n.1743T>C | ||
| ENST00000547238.6:n.1315T>C | ||
| ENST00000547520.6:n.673T>C | ||
| ENST00000547757.2:c.-273T>C | ENSP00000448020.2:n.-273T>C | |
| ENST00000548880.2:n.1129T>C | ||
| ENST00000548931.6:c.199T>C | ENSP00000457518.1:p.Leu67= | |
| ENST00000549450.6:n.613T>C | ||
| ENST00000552161.6:n.1635T>C | ||
| ENST00000672797.1:n.1132T>C | ||
| ENST00000672900.1:n.1477T>C | ||
| ENST00000209873.8:c.679T>C | ENSP00000209873.4:p.Leu227= | |
| ENST00000394384.7:c.580T>C | ENSP00000377908.3:p.Leu194= | |
| ENST00000546393.6:n.576T>C | ||
| ENST00000547238.5:n.1072T>C | ||
| ENST00000547520.5:n.383T>C | ||
| ENST00000547757.1:c.580T>C | ENSP00000448020.1:p.Leu194= | |
| ENST00000547761.6:n.571T>C | ||
| ENST00000548931.5:c.199T>C | ENSP00000457518.1:p.Leu67= | |
| ENST00000549983.5:n.702T>C | ||
| ENST00000550286.5:c.307T>C | ENSP00000446885.1:p.Leu103= | |
| ENST00000552876.5:n.1022T>C | ||
| NM_001173466.1:c.580T>C | NP_001166937.1:p.Leu194= | |
| NM_015665.5:c.679T>C | NP_056480.1:p.Leu227= | |
| XM_006719617.2:c.694T>C | XP_006719680.1:p.Leu232= | |
| XM_006719619.2:c.694T>C | XP_006719682.1:p.Leu232= | |
| XM_011538777.1:c.694T>C | XP_011537079.1:p.Leu232= | |
| XM_011538778.1:c.679T>C | XP_011537080.1:p.Leu227= | |
| XM_011538779.1:c.595T>C | XP_011537081.1:p.Leu199= | |
| XM_011538780.1:c.580T>C | XP_011537082.1:p.Leu194= | |
| XM_011538778.2:c.679T>C | XP_011537080.1:p.Leu227= | |
| XM_011538780.2:c.580T>C | XP_011537082.1:p.Leu194= | |
| XR_001748875.2:n.700T>C | ||
| NM_015665.6:c.679T>C MANE Select | NP_056480.1:p.Leu227= | |
| NM_001173466.2:c.580T>C | NP_001166937.1:p.Leu194= |