Linked Data
dbSNP Id:
rs41267005
ExAC:
3:93617327 C / T
gnomAD v2:
3-93617327-C-T
gnomAD v3:
3-93898483-C-T
gnomAD v4:
3-93898483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93898483C>T , CM000665.2:g.93898483C>T | GRCh38 |
| NC_000003.11:g.93617327C>T , CM000665.1:g.93617327C>T | GRCh37 |
| NC_000003.10:g.95100017C>T | NCBI36 |
| NG_009813.1:g.80608G>A , LRG_572:g.80608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.814G>A | ENSP00000330021.7:p.Gly272Arg | |
| ENST00000394236.9:c.814G>A MANE Select | ENSP00000377783.3:p.Gly272Arg | |
| ENST00000407433.6:c.769G>A | ENSP00000385794.2:p.Gly257Arg | |
| ENST00000647936.1:c.814G>A | ENSP00000496822.1:p.Gly272Arg | |
| ENST00000648381.1:n.982G>A | ||
| ENST00000648853.1:c.772G>A | ENSP00000497262.1:p.Gly258Arg | |
| ENST00000649103.1:c.913G>A | ENSP00000497962.1:n.913G>A | |
| ENST00000650591.1:c.910G>A | ENSP00000497376.1:p.Gly304Arg | |
| ENST00000394236.7:c.814G>A | ENSP00000377783.3:p.Gly272Arg | |
| ENST00000407433.5:c.421G>A | ENSP00000385794.1:p.Gly141Arg | |
| NM_000313.3:c.814G>A , LRG_572t1:c.814G>A | NP_000304.2:p.Gly272Arg | |
| NM_001314077.1:c.910G>A , LRG_572t2:c.910G>A | NP_001301006.1:p.Gly304Arg | |
| NM_000313.4:c.814G>A MANE Select | NP_000304.2:p.Gly272Arg | |
| NM_001314077.2:c.910G>A | NP_001301006.1:p.Gly304Arg |