Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942873T>G , CM000678.2:g.67942873T>G | GRCh38 |
| NC_000016.9:g.67976776T>G , CM000678.1:g.67976776T>G | GRCh37 |
| NC_000016.8:g.66534277T>G | NCBI36 |
| NG_009778.1:g.6240A>C | |
| NG_033098.1:g.30822A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.415A>C MANE Select | ENSP00000264005.5:p.Ser139Arg | |
| ENST00000264005.9:c.415A>C | ENSP00000264005.5:p.Ser139Arg | |
| ENST00000570369.5:c.143A>C | ||
| ENST00000570980.1:c.199A>C | ENSP00000464651.1:p.Ser67Arg | |
| ENST00000573538.5:c.58A>C | ENSP00000463220.1:p.Ser20Arg | |
| ENST00000573846.1:n.29A>C | ||
| ENST00000575277.1:n.193A>C | ||
| ENST00000575467.5:c.*110A>C | ENSP00000460653.1:n.*110A>C | |
| NM_000229.1:c.415A>C | NP_000220.1:p.Ser139Arg | |
| NM_000229.2:c.415A>C MANE Select | NP_000220.1:p.Ser139Arg |