Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459279G= , CM000668.2:g.49459279G= | GRCh38 |
| NC_000006.11:g.49426992G= , CM000668.1:g.49426992G= | GRCh37 |
| NC_000006.10:g.49534951G= | NCBI36 |
| NG_007100.1:g.8861C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.188C= MANE Select | ENSP00000274813.3:p.Thr63= | |
| ENST00000274813.3:c.188C= | ENSP00000274813.3:p.Thr63= | |
| NM_000255.3:c.188C= | NP_000246.2:p.Thr63= | |
| XM_005249143.2:c.188C= | XP_005249200.1:p.Thr63= | |
| XM_005249143.3:c.188C= | XP_005249200.1:p.Thr63= | |
| NM_000255.4:c.188C= MANE Select | NP_000246.2:p.Thr63= |