Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116895G>A , CM000669.2:g.19116895G>A | GRCh38 |
| NC_000007.13:g.19156518G>A , CM000669.1:g.19156518G>A | GRCh37 |
| NC_000007.12:g.19123043G>A | NCBI36 |
| NG_008114.1:g.5778C>T | |
| NG_008114.2:g.5778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.427C>T MANE Select | ENSP00000242261.5:p.Leu143= | |
| ENST00000242261.5:c.427C>T | ENSP00000242261.5:p.Leu143= | |
| ENST00000354571.5:c.224C>T | ||
| ENST00000443687.5:c.30C>T | ||
| NM_000474.3:c.427C>T | NP_000465.1:p.Leu143= | |
| XM_011515496.1:c.427C>T | XP_011513798.1:p.Leu143= | |
| NR_149001.1:n.778C>T | ||
| NM_000474.4:c.427C>T MANE Select | NP_000465.1:p.Leu143= | |
| NR_149001.2:n.742C>T |