Linked Data
ClinVar Variation Id:
48187
ClinVar RCV Id:
RCV000041483
dbSNP Id:
rs111033383
ExAC:
2:26702193 C / T
gnomAD v2:
2-26702193-C-T
gnomAD v3:
2-26479325-C-T
gnomAD v4:
2-26479325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26479325C>T , CM000664.2:g.26479325C>T | GRCh38 |
| NC_000002.11:g.26702193C>T , CM000664.1:g.26702193C>T | GRCh37 |
| NC_000002.10:g.26555697C>T | NCBI36 |
| NG_009937.1:g.84374G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.2153G>A MANE Select | ENSP00000272371.2:p.Trp718Ter | |
| ENST00000272371.6:c.2153G>A | ENSP00000272371.2:p.Trp718Ter | |
| ENST00000403946.7:c.2153G>A | ENSP00000385255.3:p.Trp718Ter | |
| NM_001287489.1:c.2153G>A | NP_001274418.1:p.Trp718Ter | |
| NM_194248.2:c.2153G>A | NP_919224.1:p.Trp718Ter | |
| XM_005264644.2:c.2198G>A | XP_005264701.1:p.Trp733Ter | |
| XM_011533185.1:c.2198G>A | XP_011531487.1:p.Trp733Ter | |
| XM_017005338.1:c.2153G>A | XP_016860827.1:p.Trp718Ter | |
| NM_001287489.2:c.2153G>A | NP_001274418.1:p.Trp718Ter | |
| NM_194248.3:c.2153G>A MANE Select | NP_919224.1:p.Trp718Ter |