Linked Data
dbSNP Id:
rs753792006
ExAC:
11:116693483 C / T
gnomAD v2:
11-116693483-C-T
gnomAD v4:
11-116822767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822767C>T , CM000673.2:g.116822767C>T | GRCh38 |
| NC_000011.9:g.116693483C>T , CM000673.1:g.116693483C>T | GRCh37 |
| NC_000011.8:g.116198693C>T | NCBI36 |
| NG_012044.1:g.5529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.68G>A MANE Select | ENSP00000350425.3:p.Ser23Asn | |
| ENST00000357780.4:c.68G>A | ENSP00000350425.3:p.Ser23Asn | |
| NM_000482.3:c.68G>A | NP_000473.2:p.Ser23Asn | |
| NM_000482.4:c.68G>A MANE Select | NP_000473.2:p.Ser23Asn |