Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372420C>A , CM000679.2:g.44372420C>A | GRCh38 |
| NC_000017.10:g.42449788C>A , CM000679.1:g.42449788C>A | GRCh37 |
| NC_000017.9:g.39805314C>A | NCBI36 |
| NG_008331.1:g.22086G>T , LRG_479:g.22086G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3064G>T MANE Select | ENSP00000262407.5:p.Gly1022Cys | |
| ENST00000648408.1:c.2378G>T | ||
| ENST00000262407.5:c.3064G>T | ENSP00000262407.5:p.Gly1022Cys | |
| ENST00000587295.5:c.257G>T | ||
| ENST00000588098.1:c.41G>T | ||
| NM_000419.3:c.3064G>T , LRG_479t1:c.3064G>T | NP_000410.2:p.Gly1022Cys | |
| XM_011524749.1:c.2962G>T | XP_011523051.1:p.Gly988Cys | |
| XM_011524750.1:c.2947G>T | XP_011523052.1:p.Gly983Cys | |
| NM_000419.4:c.3064G>T | NP_000410.2:p.Gly1022Cys | |
| NM_000419.5:c.3064G>T MANE Select | NP_000410.2:p.Gly1022Cys |