Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831779A>G , CM000664.2:g.70831779A>G | GRCh38 |
| NC_000002.11:g.71058910A>G , CM000664.1:g.71058910A>G | GRCh37 |
| NC_000002.10:g.70912418A>G | NCBI36 |
| NG_033914.1:g.9045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.758T>C MANE Select | ENSP00000386378.3:p.Ile253Thr | |
| ENST00000410009.4:c.758T>C | ENSP00000386378.3:p.Ile253Thr | |
| NM_015717.4:c.758T>C | NP_056532.4:p.Ile253Thr | |
| XM_011532874.1:c.758T>C | XP_011531176.1:p.Ile253Thr | |
| XM_011532875.1:c.758T>C | XP_011531177.1:p.Ile253Thr | |
| XM_011532876.1:c.758T>C | XP_011531178.1:p.Ile253Thr | |
| XM_011532875.2:c.758T>C | XP_011531177.1:p.Ile253Thr | |
| XM_011532876.2:c.758T>C | XP_011531178.1:p.Ile253Thr | |
| NM_015717.5:c.758T>C MANE Select | NP_056532.4:p.Ile253Thr |