Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942873T>A , CM000678.2:g.67942873T>A | GRCh38 |
| NC_000016.9:g.67976776T>A , CM000678.1:g.67976776T>A | GRCh37 |
| NC_000016.8:g.66534277T>A | NCBI36 |
| NG_009778.1:g.6240A>T | |
| NG_033098.1:g.30822A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.415A>T MANE Select | ENSP00000264005.5:p.Ser139Cys | |
| ENST00000264005.9:c.415A>T | ENSP00000264005.5:p.Ser139Cys | |
| ENST00000570369.5:c.143A>T | ||
| ENST00000570980.1:c.199A>T | ENSP00000464651.1:p.Ser67Cys | |
| ENST00000573538.5:c.58A>T | ENSP00000463220.1:p.Ser20Cys | |
| ENST00000573846.1:n.29A>T | ||
| ENST00000575277.1:n.193A>T | ||
| ENST00000575467.5:c.*110A>T | ENSP00000460653.1:n.*110A>T | |
| NM_000229.1:c.415A>T | NP_000220.1:p.Ser139Cys | |
| NM_000229.2:c.415A>T MANE Select | NP_000220.1:p.Ser139Cys |