Linked Data
dbSNP Id:
rs779441983
ExAC:
9:894146 G / T
gnomAD v2:
9-894146-G-T
gnomAD v4:
9-894146-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894146G>T , CM000671.2:g.894146G>T | GRCh38 |
| NC_000009.11:g.894146G>T , CM000671.1:g.894146G>T | GRCh37 |
| NC_000009.10:g.884146G>T | NCBI36 |
| NG_009221.1:g.57457G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.773G>T MANE Select | ENSP00000371711.3:p.Arg258Leu | |
| ENST00000382276.7:c.773G>T | ENSP00000371711.3:p.Arg258Leu | |
| ENST00000564322.1:n.922G>T | ||
| ENST00000569227.1:c.299G>T | ENSP00000454701.1:p.Arg100Leu | |
| NM_021951.2:c.773G>T | NP_068770.2:p.Arg258Leu | |
| XM_006716732.1:c.773G>T | XP_006716795.1:p.Arg258Leu | |
| XM_011517770.1:c.821G>T | XP_011516072.1:p.Arg274Leu | |
| XM_011517771.1:c.821G>T | XP_011516073.1:p.Arg274Leu | |
| XM_011517772.1:c.821G>T | XP_011516074.1:p.Arg274Leu | |
| XM_011517773.1:c.299G>T | XP_011516075.1:p.Arg100Leu | |
| NM_001363767.1:c.299G>T | NP_001350696.1:p.Arg100Leu | |
| XM_011517773.3:c.299G>T | XP_011516075.1:p.Arg100Leu | |
| XM_017014374.1:c.587-22617G>T | XP_016869863.1:n.587-22617G>T | |
| XM_017014375.1:c.539-22617G>T | XP_016869864.1:n.539-22617G>T | |
| XM_024447434.1:c.227G>T | XP_024303202.1:p.Arg76Leu | |
| NM_021951.3:c.773G>T MANE Select | NP_068770.2:p.Arg258Leu |