Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215628956A>G , CM000663.2:g.215628956A>G | GRCh38 |
| NC_000001.10:g.215802298A>G , CM000663.1:g.215802298A>G | GRCh37 |
| NC_000001.9:g.213868921A>G | NCBI36 |
| NG_009497.1:g.799441T>C | |
| NG_009497.2:g.799493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.15377T>C MANE Select | ENSP00000305941.3:p.Ile5126Thr | |
| ENST00000674083.1:c.15449T>C | ENSP00000501296.1:p.Ile5150Thr | |
| ENST00000307340.7:c.15377T>C | ENSP00000305941.3:p.Ile5126Thr | |
| NM_206933.2:c.15377T>C | NP_996816.2:p.Ile5126Thr | |
| NM_206933.3:c.15377T>C | NP_996816.2:p.Ile5126Thr | |
| NM_206933.4:c.15377T>C MANE Select | NP_996816.3:p.Ile5126Thr |