Linked Data
ClinVar Variation Id:
12003
dbSNP Id:
rs80356484
ExAC:
17:41063017 G / T
gnomAD v2:
17-41063017-G-T
gnomAD v3:
17-42911000-G-T
gnomAD v4:
17-42911000-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911000G>T , CM000679.2:g.42911000G>T | GRCh38 |
| NC_000017.10:g.41063017G>T , CM000679.1:g.41063017G>T | GRCh37 |
| NC_000017.9:g.38316543G>T | NCBI36 |
| NG_011808.1:g.15203G>T , LRG_147:g.15203G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.648G>T MANE Select | ENSP00000253801.1:p.Leu216= | |
| ENST00000253801.6:c.648G>T | ENSP00000253801.1:p.Leu216= | |
| ENST00000585489.1:c.*40G>T | ENSP00000466202.1:n.*40G>T | |
| ENST00000592383.5:c.*40G>T | ENSP00000465958.1:n.*40G>T | |
| NM_000151.3:c.648G>T | NP_000142.2:p.Leu216= | |
| NM_001270397.1:c.*40G>T | NP_001257326.1:n.*40G>T | |
| NM_000151.4:c.648G>T MANE Select | NP_000142.2:p.Leu216= | |
| NM_001270397.2:c.*40G>T | NP_001257326.1:n.*40G>T |