Linked Data
dbSNP Id:
rs755897895
ExAC:
8:10470028 C / T
gnomAD v2:
8-10470028-C-T
gnomAD v3:
8-10612518-C-T
gnomAD v4:
8-10612518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612518C>T , CM000670.2:g.10612518C>T | GRCh38 |
| NC_000008.10:g.10470028C>T , CM000670.1:g.10470028C>T | GRCh37 |
| NC_000008.9:g.10507438C>T | NCBI36 |
| NG_028035.1:g.47590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1580G>A MANE Select | ENSP00000371923.3:p.Ser527Asn | |
| ENST00000382483.3:c.1580G>A | ENSP00000371923.3:p.Ser527Asn | |
| NM_178857.5:c.1580G>A | NP_849188.4:p.Ser527Asn | |
| NM_178857.6:c.1580G>A MANE Select | NP_849188.4:p.Ser527Asn |