Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104057101C>A , CM000672.2:g.104057101C>A | GRCh38 |
| NC_000010.10:g.105816859C>A , CM000672.1:g.105816859C>A | GRCh37 |
| NC_000010.9:g.105806849C>A | NCBI36 |
| NG_007069.1:g.33780G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1339G>T MANE Select | NP_000485.3:p.Gly447Cys |
| ENST00000648076.2:c.1339G>T MANE Select | ENSP00000497653.1:p.Gly447Cys |
| NM_000494.3:c.1339G>T | NP_000485.3:p.Gly447Cys |
| ENST00000353479.9:c.1339G>T | ENSP00000340937.5:p.Gly447Cys |
| ENST00000369733.7:c.1339G>T | ENSP00000358748.3:p.Gly447Cys |
| ENST00000369733.8:c.1339G>T | ENSP00000358748.3:p.Gly447Cys |
| ENST00000650263.1:c.1291G>T | ENSP00000497850.1:p.Gly431Cys |