Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624416T>G , CM000670.2:g.64624416T>G | GRCh38 |
| NC_000008.10:g.65536973T>G , CM000670.1:g.65536973T>G | GRCh37 |
| NC_000008.9:g.65699527T>G | NCBI36 |
| NG_008338.1:g.179376A>C | |
| NG_008338.2:g.179376A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.246A>C MANE Select | ENSP00000310721.3:p.Thr82= | |
| ENST00000310193.3:c.246A>C | ENSP00000310721.3:p.Thr82= | |
| NM_004820.3:c.246A>C | NP_004811.1:p.Thr82= | |
| NM_001324112.1:c.246A>C | NP_001311041.1:p.Thr82= | |
| NM_004820.4:c.246A>C | NP_004811.1:p.Thr82= | |
| XM_017014002.1:c.312A>C | XP_016869491.1:p.Thr104= | |
| NM_004820.5:c.246A>C MANE Select | NP_004811.1:p.Thr82= | |
| NM_001324112.2:c.246A>C | NP_001311041.1:p.Thr82= |