Linked Data
dbSNP Id:
rs929929162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475365C>G , CM000673.2:g.113475365C>G | GRCh38 |
| NC_000011.9:g.113346087C>G , CM000673.1:g.113346087C>G | GRCh37 |
| NC_000011.8:g.112851297C>G | NCBI36 |
| NG_008841.1:g.4915G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-321G>C MANE Select | ENSP00000354859.3:n.-321G>C | |
| ENST00000362072.7:c.-321G>C | ENSP00000354859.3:n.-321G>C | |
| ENST00000540600.5:n.34+293G>C | ||
| NM_000795.4:c.-321G>C MANE Select | NP_000786.1:n.-321G>C | |
| NM_016574.4:c.-321G>C | NP_057658.2:n.-321G>C |