Linked Data
ClinVar Variation Id:
458782
dbSNP Id:
rs752138290
ExAC:
5:127597562 A / C
gnomAD v2:
5-127597562-A-C
gnomAD v3:
5-128261870-A-C
gnomAD v4:
5-128261870-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261870A>C , CM000667.2:g.128261870A>C | GRCh38 |
| NC_000005.9:g.127597562A>C , CM000667.1:g.127597562A>C | GRCh37 |
| NC_000005.8:g.127625461A>C | NCBI36 |
| NG_008750.1:g.281174T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8230T>G MANE Select | ENSP00000262464.4:p.Tyr2744Asp | |
| ENST00000262464.8:c.8230T>G | ENSP00000262464.4:p.Tyr2744Asp | |
| ENST00000508053.5:c.8230T>G | ENSP00000424571.1:p.Tyr2744Asp | |
| ENST00000619499.4:c.8227T>G | ENSP00000482132.1:p.Tyr2743Asp | |
| NM_001999.3:c.8230T>G | NP_001990.2:p.Tyr2744Asp | |
| XM_017009228.2:c.8077T>G | XP_016864717.1:p.Tyr2693Asp | |
| NM_001999.4:c.8230T>G MANE Select | NP_001990.2:p.Tyr2744Asp |