Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031388G>T , CM000667.2:g.135031388G>T | GRCh38 |
| NC_000005.9:g.134367078G>T , CM000667.1:g.134367078G>T | GRCh37 |
| NC_000005.8:g.134394977G>T | NCBI36 |
| NG_012114.1:g.7887C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.290C>A MANE Select | ENSP00000265340.6:p.Thr97Lys | |
| ENST00000265340.11:c.290C>A | ENSP00000265340.6:p.Thr97Lys | |
| ENST00000502676.1:c.290C>A | ENSP00000423624.1:p.Thr97Lys | |
| ENST00000503586.1:c.412C>A | ||
| ENST00000504936.1:n.623C>A | ||
| ENST00000506438.5:c.290C>A | ENSP00000427542.1:p.Thr97Lys | |
| ENST00000507253.5:c.290C>A | ENSP00000422908.1:p.Thr97Lys | |
| NM_002653.4:c.290C>A | NP_002644.4:p.Thr97Lys | |
| NM_002653.5:c.290C>A MANE Select | NP_002644.4:p.Thr97Lys |