Linked Data
dbSNP Id:
rs753750493
ExAC:
6:64498127 T / G
gnomAD v2:
6-64498127-T-G
gnomAD v4:
6-63788234-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788234T>G , CM000668.2:g.63788234T>G | GRCh38 |
| NC_000006.11:g.64498127T>G , CM000668.1:g.64498127T>G | GRCh37 |
| NC_000006.10:g.64556086T>G | NCBI36 |
| NG_023443.1:g.1923992A>C | |
| NG_023443.2:g.1923992A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7594A>C MANE Select | ENSP00000424243.1:p.Asn2532His | |
| ENST00000370616.6:c.7594A>C | ENSP00000359650.2:p.Asn2532His | |
| ENST00000370618.7:c.7594A>C | ENSP00000359652.4:p.Asn2532His | |
| ENST00000370621.7:c.7594A>C | ENSP00000359655.3:p.Asn2532His | |
| ENST00000398580.3:c.908A>C | ||
| ENST00000486069.1:n.234A>C | ||
| ENST00000503581.5:c.7594A>C | ENSP00000424243.1:p.Asn2532His | |
| NM_001142800.1:c.7594A>C | NP_001136272.1:p.Asn2532His | |
| NM_001292009.1:c.7594A>C | NP_001278938.1:p.Asn2532His | |
| NM_001142800.2:c.7594A>C MANE Select | NP_001136272.1:p.Asn2532His | |
| NM_001292009.2:c.7594A>C | NP_001278938.1:p.Asn2532His |