Linked Data
dbSNP Id:
rs549662633
ExAC:
8:37823791 G / A
gnomAD v2:
8-37823791-G-A
gnomAD v3:
8-37966273-G-A
gnomAD v4:
8-37966273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966273G>A , CM000670.2:g.37966273G>A | GRCh38 |
| NC_000008.10:g.37823791G>A , CM000670.1:g.37823791G>A | GRCh37 |
| NC_000008.9:g.37942948G>A | NCBI36 |
| NG_011936.1:g.5394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.197C>T MANE Select | ENSP00000343782.3:p.Pro66Leu | |
| ENST00000520341.2:n.325C>T | ||
| ENST00000345060.4:c.197C>T | ENSP00000343782.3:p.Pro66Leu | |
| ENST00000614635.1:c.197C>T | ENSP00000480325.1:p.Pro66Leu | |
| NM_000025.2:c.197C>T | NP_000016.1:p.Pro66Leu | |
| NM_000025.3:c.197C>T MANE Select | NP_000016.1:p.Pro66Leu |