Linked Data
dbSNP Id:
rs2128748007
gnomAD v4:
6-143485057-T-C
MyVariant Identifiers:
chr6:g.143806194T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485057T>C , CM000668.2:g.143485057T>C | GRCh38 |
| NC_000006.11:g.143806194T>C , CM000668.1:g.143806194T>C | GRCh37 |
| NC_000006.10:g.143847887T>C | NCBI36 |
| NG_008459.1:g.39277T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.942-95T>C MANE Select | ENSP00000356563.4:n.942-95T>C | |
| ENST00000367591.4:c.942-95T>C | ENSP00000356563.4:n.942-95T>C | |
| NM_003630.2:c.942-95T>C | NP_003621.1:n.942-95T>C | |
| NM_003630.3:c.942-95T>C MANE Select | NP_003621.1:n.942-95T>C |