Linked Data
dbSNP Id:
rs1180564454
gnomAD v2:
12-52913613-T-G
gnomAD v3:
12-52519829-T-G
gnomAD v4:
12-52519829-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519829T>G , CM000674.2:g.52519829T>G | GRCh38 |
| NC_000012.11:g.52913613T>G , CM000674.1:g.52913613T>G | GRCh37 |
| NC_000012.10:g.51199880T>G | NCBI36 |
| NG_008297.1:g.5631A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.468A>C MANE Select | ENSP00000252242.4:p.Gln156His | |
| ENST00000252242.8:c.468A>C | ENSP00000252242.4:p.Gln156His | |
| ENST00000549420.1:c.138A>C | ENSP00000447209.1:p.Gln46His | |
| ENST00000551275.1:c.363A>C | ENSP00000448041.1:p.Gln121His | |
| ENST00000552629.5:n.566A>C | ||
| NM_000424.3:c.468A>C | NP_000415.2:p.Gln156His | |
| NM_000424.4:c.468A>C MANE Select | NP_000415.2:p.Gln156His |