Linked Data
ClinVar Variation Id:
450335
dbSNP Id:
rs745743884
ExAC:
2:189858802 C / T
gnomAD v2:
2-189858802-C-T
gnomAD v3:
2-188994076-C-T
gnomAD v4:
2-188994076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994076C>T , CM000664.2:g.188994076C>T | GRCh38 |
| NC_000002.11:g.189858802C>T , CM000664.1:g.189858802C>T | GRCh37 |
| NC_000002.10:g.189567047C>T | NCBI36 |
| NG_007404.1:g.24704C>T , LRG_3:g.24704C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1089C>T | ENSP00000415346.2:p.Gly363= | |
| ENST00000304636.9:c.1188C>T MANE Select | ENSP00000304408.4:p.Gly396= | |
| ENST00000304636.7:c.1188C>T | ENSP00000304408.3:p.Gly396= | |
| ENST00000317840.9:c.1188C>T | ENSP00000315243.6:p.Gly396= | |
| ENST00000450867.1:c.187C>T | ||
| NM_000090.3:c.1188C>T , LRG_3t1:c.1188C>T | NP_000081.1:p.Gly396= | |
| NM_000090.4:c.1188C>T MANE Select | NP_000081.2:p.Gly396= |