Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942870T>G , CM000678.2:g.67942870T>G | GRCh38 |
| NC_000016.9:g.67976773T>G , CM000678.1:g.67976773T>G | GRCh37 |
| NC_000016.8:g.66534274T>G | NCBI36 |
| NG_009778.1:g.6243A>C | |
| NG_033098.1:g.30825A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.418A>C MANE Select | ENSP00000264005.5:p.Lys140Gln | |
| ENST00000264005.9:c.418A>C | ENSP00000264005.5:p.Lys140Gln | |
| ENST00000570369.5:c.146A>C | ||
| ENST00000570980.1:c.202A>C | ENSP00000464651.1:p.Lys68Gln | |
| ENST00000573538.5:c.61A>C | ENSP00000463220.1:p.Lys21Gln | |
| ENST00000573846.1:n.32A>C | ||
| ENST00000575277.1:n.196A>C | ||
| ENST00000575467.5:c.*113A>C | ENSP00000460653.1:n.*113A>C | |
| NM_000229.1:c.418A>C | NP_000220.1:p.Lys140Gln | |
| NM_000229.2:c.418A>C MANE Select | NP_000220.1:p.Lys140Gln |