Linked Data
dbSNP Id:
rs779192494
ExAC:
1:16458585 C / T
gnomAD v2:
1-16458585-C-T
gnomAD v3:
1-16132090-C-T
gnomAD v4:
1-16132090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132090C>T , CM000663.2:g.16132090C>T | GRCh38 |
| NC_000001.10:g.16458585C>T , CM000663.1:g.16458585C>T | GRCh37 |
| NC_000001.9:g.16331172C>T | NCBI36 |
| NG_021396.1:g.28998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2299G>A MANE Select | ENSP00000351209.5:p.Asp767Asn | |
| ENST00000358432.7:c.2299G>A | ENSP00000351209.5:p.Asp767Asn | |
| NM_004431.3:c.2299G>A | NP_004422.2:p.Asp767Asn | |
| NM_001329090.1:c.2137G>A | NP_001316019.1:p.Asp713Asn | |
| NM_004431.4:c.2299G>A | NP_004422.2:p.Asp767Asn | |
| NM_004431.5:c.2299G>A MANE Select | NP_004422.2:p.Asp767Asn | |
| NM_001329090.2:c.2137G>A | NP_001316019.1:p.Asp713Asn |