Linked Data
dbSNP Id:
rs745914748
ExAC:
8:10480274 C / A
gnomAD v2:
8-10480274-C-A
gnomAD v4:
8-10622764-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622764C>A , CM000670.2:g.10622764C>A | GRCh38 |
| NC_000008.10:g.10480274C>A , CM000670.1:g.10480274C>A | GRCh37 |
| NC_000008.9:g.10517684C>A | NCBI36 |
| NG_028035.1:g.37344G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.438G>T MANE Select | ENSP00000371923.3:p.Lys146Asn | |
| ENST00000329335.3:n.688G>T | ||
| ENST00000382483.3:c.438G>T | ENSP00000371923.3:p.Lys146Asn | |
| NM_178857.5:c.438G>T | NP_849188.4:p.Lys146Asn | |
| NM_178857.6:c.438G>T MANE Select | NP_849188.4:p.Lys146Asn |