Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410843T>G , CM000677.2:g.48410843T>G | GRCh38 |
| NC_000015.9:g.48703040T>G , CM000677.1:g.48703040T>G | GRCh37 |
| NC_000015.8:g.46490332T>G | NCBI36 |
| NG_008805.2:g.239946A>C , LRG_778:g.239946A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1571A>C | ENSP00000453958.2:n.*1571A>C | |
| ENST00000682158.1:n.2144A>C | ||
| ENST00000682170.1:n.2944A>C | ||
| ENST00000682767.1:n.2060A>C | ||
| ENST00000316623.10:c.*147A>C MANE Select | ENSP00000325527.5:n.*147A>C | |
| ENST00000316623.9:c.*147A>C | ENSP00000325527.5:n.*147A>C | |
| ENST00000559133.5:c.4132A>C | ||
| NM_000138.4:c.*147A>C , LRG_778t1:c.*147A>C | NP_000129.3:n.*147A>C | |
| NM_000138.5:c.*147A>C MANE Select | NP_000129.3:n.*147A>C |