Linked Data
dbSNP Id:
rs201696296
gnomAD v4:
10-94988808-G-C
MyVariant Identifiers:
chr10:g.94988808G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988808G>C , CM000672.2:g.94988808G>C | GRCh38 |
| NC_000010.10:g.96748565G>C , CM000672.1:g.96748565G>C | GRCh37 |
| NC_000010.9:g.96738555G>C | NCBI36 |
| NG_008385.1:g.55151G>C | |
| NG_008385.2:g.55651G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1292-39G>C MANE Select | ENSP00000260682.6:n.1292-39G>C | |
| ENST00000643112.1:c.*301-39G>C | ENSP00000496202.1:n.*301-39G>C | |
| ENST00000260682.6:c.1292-39G>C | ENSP00000260682.6:n.1292-39G>C | |
| NM_000771.3:c.1292-39G>C | NP_000762.2:n.1292-39G>C | |
| NM_000771.4:c.1292-39G>C MANE Select | NP_000762.2:n.1292-39G>C |