Linked Data
dbSNP Id:
rs759071753
ExAC:
8:16850720 A / G
gnomAD v2:
8-16850720-A-G
gnomAD v4:
8-16993211-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993211A>G , CM000670.2:g.16993211A>G | GRCh38 |
| NC_000008.10:g.16850720A>G , CM000670.1:g.16850720A>G | GRCh37 |
| NC_000008.9:g.16895091A>G | NCBI36 |
| NG_015978.1:g.13955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.497T>C MANE Select | ENSP00000180166.5:p.Phe166Ser | |
| ENST00000180166.5:c.497T>C | ENSP00000180166.5:p.Phe166Ser | |
| ENST00000519941.1:c.201T>C | ||
| NM_019851.2:c.497T>C | NP_062825.1:p.Phe166Ser | |
| NM_019851.3:c.497T>C MANE Select | NP_062825.1:p.Phe166Ser |