Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22836867C>G , CM000676.2:g.22836867C>G | GRCh38 |
| NC_000014.8:g.23306076C>G , CM000676.1:g.23306076C>G | GRCh37 |
| NC_000014.7:g.22375916C>G | NCBI36 |
| NG_046989.1:g.5335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.50C>G MANE Select | ENSP00000308208.6:p.Thr17Arg | |
| ENST00000548162.2:c.50C>G | ENSP00000506068.1:p.Thr17Arg | |
| ENST00000680097.1:c.50C>G | ENSP00000506631.1:p.Thr17Arg | |
| ENST00000680941.1:c.50C>G | ENSP00000506378.1:p.Thr17Arg | |
| ENST00000311852.10:c.50C>G | ENSP00000308208.6:p.Thr17Arg | |
| ENST00000547074.1:n.308C>G | ||
| ENST00000547279.1:c.50C>G | ENSP00000450323.1:p.Thr17Arg | |
| ENST00000548162.1:n.292C>G | ||
| NM_004995.3:c.50C>G | NP_004986.1:p.Thr17Arg | |
| NM_004995.4:c.50C>G MANE Select | NP_004986.1:p.Thr17Arg |