Linked Data
dbSNP Id:
rs1182763737
gnomAD v2:
18-18535194-G-A
gnomAD v3:
18-20955233-G-A
gnomAD v4:
18-20955233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.20955233G>A , CM000680.2:g.20955233G>A | GRCh38 |
| NC_000018.9:g.18535194G>A , CM000680.1:g.18535194G>A | GRCh37 |
| NC_000018.8:g.16789192G>A | NCBI36 |
| NG_042178.2:g.161619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635540.2:c.*160C>T | ENSP00000489185.1:n.*160C>T | |
| ENST00000399799.3:c.3525C>T MANE Select | ENSP00000382697.1:p.His1175= | |
| ENST00000399799.2:c.3525C>T | ENSP00000382697.1:p.His1175= | |
| ENST00000584687.1:n.235C>T | ||
| ENST00000635540.1:c.*160C>T | ENSP00000489185.1:n.*160C>T | |
| NM_005406.2:c.3525C>T | NP_005397.1:p.His1175= | |
| XM_011526136.1:c.3603C>T | XP_011524438.1:p.His1201= | |
| XM_011526137.1:c.2136C>T | XP_011524439.1:p.His712= | |
| XM_011526137.3:c.2136C>T | XP_011524439.1:p.His712= | |
| NM_005406.3:c.3525C>T MANE Select | NP_005397.1:p.His1175= |