Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170134A>T , CM000674.2:g.65170134A>T | GRCh38 |
| NC_000012.11:g.65563914A>T , CM000674.1:g.65563914A>T | GRCh37 |
| NC_000012.10:g.63850181A>T | NCBI36 |
| NG_016210.1:g.5564A>T | |
| NG_016210.2:g.5564A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.538A>T MANE Select | ENSP00000308369.2:p.Ser180Cys | |
| ENST00000308330.2:c.538A>T | ENSP00000308369.2:p.Ser180Cys | |
| ENST00000541171.1:n.552A>T | ||
| NM_001167614.1:c.538A>T | NP_001161086.1:p.Ser180Cys | |
| NM_014319.4:c.538A>T | NP_055134.2:p.Ser180Cys | |
| NM_014319.5:c.538A>T MANE Select | NP_055134.2:p.Ser180Cys | |
| NM_001167614.2:c.538A>T | NP_001161086.1:p.Ser180Cys |