Linked Data
dbSNP Id:
rs1780298253
gnomAD v4:
6-143485135-C-T
MyVariant Identifiers:
chr6:g.143806272C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485135C>T , CM000668.2:g.143485135C>T | GRCh38 |
| NC_000006.11:g.143806272C>T , CM000668.1:g.143806272C>T | GRCh37 |
| NC_000006.10:g.143847965C>T | NCBI36 |
| NG_008459.1:g.39355C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.942-17C>T MANE Select | ENSP00000356563.4:n.942-17C>T | |
| ENST00000367591.4:c.942-17C>T | ENSP00000356563.4:n.942-17C>T | |
| ENST00000585848.1:n.64C>T | ||
| NM_003630.2:c.942-17C>T | NP_003621.1:n.942-17C>T | |
| NM_003630.3:c.942-17C>T MANE Select | NP_003621.1:n.942-17C>T |