Linked Data
ClinVar Variation Id:
855
dbSNP Id:
rs80338770
gnomAD v2:
17-26732378-G-A
gnomAD v4:
17-28405360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405360G>A , CM000679.2:g.28405360G>A | GRCh38 |
| NC_000017.10:g.26732378G>A , CM000679.1:g.26732378G>A | GRCh37 |
| NC_000017.9:g.23756505G>A | NCBI36 |
| NG_013306.1:g.5851C>T , LRG_183:g.5851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.337C>T MANE Select | ENSP00000480703.1:p.Arg113Cys | |
| ENST00000578217.1:n.67+321C>T | ||
| ENST00000582590.1:n.391C>T | ||
| ENST00000584426.1:c.73C>T | ENSP00000467416.1:p.Arg25Cys | |
| ENST00000584995.5:c.115C>T | ENSP00000464190.1:p.Arg39Cys | |
| ENST00000612814.4:c.337C>T | ENSP00000480703.1:p.Arg113Cys | |
| ENST00000618626.1:c.337C>T | ENSP00000483652.1:p.Arg113Cys | |
| NM_001242366.2:c.337C>T | NP_001229295.1:p.Arg113Cys | |
| NM_080669.5:c.337C>T | NP_542400.2:p.Arg113Cys | |
| XM_005277786.2:c.337C>T | XP_005277843.1:p.Arg113Cys | |
| XM_005277786.3:c.337C>T | XP_005277843.1:p.Arg113Cys | |
| XM_017024110.1:c.115C>T | XP_016879599.1:p.Arg39Cys | |
| NM_080669.6:c.337C>T MANE Select | NP_542400.2:p.Arg113Cys | |
| NM_001242366.3:c.337C>T | NP_001229295.1:p.Arg113Cys |