Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271142G>A , CM000668.2:g.31271142G>A | GRCh38 |
| NC_000006.11:g.31238919G>A , CM000668.1:g.31238919G>A | GRCh37 |
| NC_000006.10:g.31346898G>A | NCBI36 |
| NG_029422.2:g.5990C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.550C>T MANE Select | ENSP00000365402.5:p.Leu184= | |
| ENST00000376228.9:c.550C>T | ENSP00000365402.5:p.Leu184= | |
| ENST00000376237.8:c.*137C>T | ENSP00000365412.4:n.*137C>T | |
| ENST00000383329.7:c.550C>T | ENSP00000372819.3:p.Leu184= | |
| ENST00000415537.1:c.548C>T | ||
| ENST00000484378.1:n.819C>T | ||
| ENST00000487245.5:n.909C>T | ||
| ENST00000495835.1:n.739C>T | ||
| NM_002117.5:c.550C>T | NP_002108.4:p.Leu184= | |
| NM_002117.6:c.550C>T MANE Select | NP_002108.4:p.Leu184= |