Linked Data
dbSNP Id:
rs1235225331
gnomAD v2:
4-4864537-G-T
gnomAD v3:
4-4862810-G-T
gnomAD v4:
4-4862810-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862810G>T , CM000666.2:g.4862810G>T | GRCh38 |
| NC_000004.11:g.4864537G>T , CM000666.1:g.4864537G>T | GRCh37 |
| NC_000004.10:g.4915438G>T | NCBI36 |
| NG_008121.1:g.8146G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.579G>T MANE Select | ENSP00000372170.4:p.Gln193His | |
| ENST00000382723.4:c.579G>T | ENSP00000372170.4:p.Gln193His | |
| ENST00000468421.1:n.291G>T | ||
| NM_002448.3:c.579G>T MANE Select | NP_002439.2:p.Gln193His |