Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957063G>A , CM000685.2:g.154957063G>A | GRCh38 |
| NC_000023.10:g.154185338G>A , CM000685.1:g.154185338G>A | GRCh37 |
| NC_000023.9:g.153838532G>A | NCBI36 |
| NG_011403.1:g.70661C>T | |
| NG_011403.2:g.70661C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1646C>T MANE Select | ENSP00000353393.4:p.Thr549Ile | |
| ENST00000647125.1:c.*1522C>T | ENSP00000496062.1:n.*1522C>T | |
| ENST00000360256.8:c.1646C>T | ENSP00000353393.4:p.Thr549Ile | |
| NM_000132.3:c.1646C>T | NP_000123.1:p.Thr549Ile | |
| XM_011531126.1:c.1541C>T | XP_011529428.1:p.Thr514Ile | |
| NM_000132.4:c.1646C>T MANE Select | NP_000123.1:p.Thr549Ile |