Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276389A>G , CM000672.2:g.80276389A>G | GRCh38 |
| NC_000010.10:g.82036145A>G , CM000672.1:g.82036145A>G | GRCh37 |
| NC_000010.9:g.82026125A>G | NCBI36 |
| NG_008083.1:g.18290T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.755T>C MANE Select | NP_000420.1:p.Ile252Thr |
| ENST00000372213.8:c.755T>C MANE Select | ENSP00000361287.3:p.Ile252Thr |
| NM_000429.2:c.755T>C | NP_000420.1:p.Ile252Thr |
| ENST00000372213.7:c.755T>C | ENSP00000361287.3:p.Ile252Thr |
| XM_005269842.3:c.755T>C | XP_005269899.1:p.Ile252Thr |
| XM_005269843.3:c.632T>C | XP_005269900.1:p.Ile211Thr |