Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.57908377T>G , CM000685.2:g.57908377T>G | GRCh38 |
| NC_000023.10:g.57934811T>G , CM000685.1:g.57934811T>G | GRCh37 |
| NC_000023.9:g.57951536T>G | NCBI36 |
| NG_015974.1:g.7257A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358697.6:c.2044A>C MANE Select | ENSP00000351530.4:p.Thr682Pro | |
| ENST00000358697.5:c.2044A>C | ENSP00000351530.4:p.Thr682Pro | |
| NM_007156.4:c.2044A>C | NP_009087.1:p.Thr682Pro | |
| NM_007156.5:c.2044A>C MANE Select | NP_009087.1:p.Thr682Pro |