Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116884A>G , CM000669.2:g.19116884A>G | GRCh38 |
| NC_000007.13:g.19156507A>G , CM000669.1:g.19156507A>G | GRCh37 |
| NC_000007.12:g.19123032A>G | NCBI36 |
| NG_008114.1:g.5789T>C | |
| NG_008114.2:g.5789T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.438T>C MANE Select | ENSP00000242261.5:p.Ile146= | |
| ENST00000242261.5:c.438T>C | ENSP00000242261.5:p.Ile146= | |
| ENST00000354571.5:c.235T>C | ||
| ENST00000443687.5:c.41T>C | ||
| NM_000474.3:c.438T>C | NP_000465.1:p.Ile146= | |
| XM_011515496.1:c.438T>C | XP_011513798.1:p.Ile146= | |
| NR_149001.1:n.789T>C | ||
| NM_000474.4:c.438T>C MANE Select | NP_000465.1:p.Ile146= | |
| NR_149001.2:n.753T>C |