Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99430522G>A , CM000672.2:g.99430522G>A | GRCh38 |
| NC_000010.10:g.101190279G>A , CM000672.1:g.101190279G>A | GRCh37 |
| NC_000010.9:g.101180269G>A | NCBI36 |
| NG_032044.1:g.5252C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002079.3:c.44C>T MANE Select | NP_002070.1:p.Pro15Leu |
| ENST00000370508.7:c.44C>T MANE Select | ENSP00000359539.5:p.Pro15Leu |
| NM_002079.2:c.44C>T | NP_002070.1:p.Pro15Leu |
| ENST00000370508.5:c.44C>T | ENSP00000359539.5:p.Pro15Leu |
| ENST00000471741.1:n.103C>T | |
| XR_945681.1:n.134C>T |