Linked Data
dbSNP Id:
rs2052472913
gnomAD v3:
17-56594916-G-C
gnomAD v4:
17-56594916-G-C
MyVariant Identifiers:
chr17:g.54672277G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594916G>C , CM000679.2:g.56594916G>C | GRCh38 |
| NC_000017.10:g.54672277G>C , CM000679.1:g.54672277G>C | GRCh37 |
| NC_000017.9:g.52027276G>C | NCBI36 |
| NG_011958.1:g.6218G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.693G>C MANE Select | ENSP00000328181.4:p.Ser231= | |
| ENST00000332822.4:c.693G>C | ENSP00000328181.4:p.Ser231= | |
| NM_005450.4:c.693G>C | NP_005441.1:p.Ser231= | |
| NM_005450.6:c.693G>C MANE Select | NP_005441.1:p.Ser231= |