Linked Data
ClinVar Variation Id:
420270
ClinVar RCV Id:
RCV000480004
dbSNP Id:
rs777866283
ExAC:
2:189901365 G / T
gnomAD v2:
2-189901365-G-T
gnomAD v3:
2-189036639-G-T
gnomAD v4:
2-189036639-G-T
COSMIC:
COSM6199026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189036639G>T , CM000664.2:g.189036639G>T | GRCh38 |
| NC_000002.11:g.189901365G>T , CM000664.1:g.189901365G>T | GRCh37 |
| NC_000002.10:g.189609610G>T | NCBI36 |
| NG_011799.1:g.148241C>A | |
| NG_011799.2:g.148241C>A | |
| NG_011799.3:g.193663C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4090C>A MANE Select | ENSP00000364000.3:p.Leu1364Ile | |
| ENST00000374866.7:c.4090C>A | ENSP00000364000.3:p.Leu1364Ile | |
| ENST00000618828.1:c.2929C>A | ENSP00000482184.1:p.Leu977Ile | |
| NM_000393.3:c.4090C>A | NP_000384.2:p.Leu1364Ile | |
| XM_011510573.1:c.3952C>A | XP_011508875.1:p.Leu1318Ile | |
| NM_000393.4:c.4090C>A | NP_000384.2:p.Leu1364Ile | |
| XM_011510573.3:c.3952C>A | XP_011508875.1:p.Leu1318Ile | |
| NM_000393.5:c.4090C>A MANE Select | NP_000384.2:p.Leu1364Ile |