Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942866A>G , CM000678.2:g.67942866A>G | GRCh38 |
| NC_000016.9:g.67976769A>G , CM000678.1:g.67976769A>G | GRCh37 |
| NC_000016.8:g.66534270A>G | NCBI36 |
| NG_009778.1:g.6247T>C | |
| NG_033098.1:g.30829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.422T>C MANE Select | ENSP00000264005.5:p.Leu141Pro | |
| ENST00000264005.9:c.422T>C | ENSP00000264005.5:p.Leu141Pro | |
| ENST00000570369.5:c.150T>C | ||
| ENST00000570980.1:c.206T>C | ENSP00000464651.1:p.Leu69Pro | |
| ENST00000573538.5:c.65T>C | ENSP00000463220.1:p.Leu22Pro | |
| ENST00000573846.1:n.36T>C | ||
| ENST00000575277.1:n.200T>C | ||
| ENST00000575467.5:c.*117T>C | ENSP00000460653.1:n.*117T>C | |
| NM_000229.1:c.422T>C | NP_000220.1:p.Leu141Pro | |
| NM_000229.2:c.422T>C MANE Select | NP_000220.1:p.Leu141Pro |