Linked Data
dbSNP Id:
rs1313821191
gnomAD v2:
4-4864701-C-T
gnomAD v3:
4-4862974-C-T
gnomAD v4:
4-4862974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862974C>T , CM000666.2:g.4862974C>T | GRCh38 |
| NC_000004.11:g.4864701C>T , CM000666.1:g.4864701C>T | GRCh37 |
| NC_000004.10:g.4915602C>T | NCBI36 |
| NG_008121.1:g.8310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.743C>T MANE Select | ENSP00000372170.4:p.Pro248Leu | |
| ENST00000382723.4:c.743C>T | ENSP00000372170.4:p.Pro248Leu | |
| ENST00000468421.1:n.455C>T | ||
| NM_002448.3:c.743C>T MANE Select | NP_002439.2:p.Pro248Leu |