Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541883C>G , CM000671.2:g.98541883C>G | GRCh38 |
| NC_000009.11:g.101304165C>G , CM000671.1:g.101304165C>G | GRCh37 |
| NC_000009.10:g.100343986C>G | NCBI36 |
| NG_016426.1:g.172315G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.620G>C MANE Select | ENSP00000259455.2:p.Arg207Thr | |
| ENST00000637410.1:n.398G>C | ||
| ENST00000259455.3:c.620G>C | ENSP00000259455.2:p.Arg207Thr | |
| ENST00000477471.1:n.407G>C | ||
| ENST00000634227.1:n.394G>C | ||
| NM_005458.7:c.620G>C | NP_005449.5:p.Arg207Thr | |
| XM_017015331.2:c.326G>C | XP_016870820.1:p.Arg109Thr | |
| NM_005458.8:c.620G>C MANE Select | NP_005449.5:p.Arg207Thr |