Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104054102A>G , CM000672.2:g.104054102A>G | GRCh38 |
| NC_000010.10:g.105813860A>G , CM000672.1:g.105813860A>G | GRCh37 |
| NC_000010.9:g.105803850A>G | NCBI36 |
| NG_007069.1:g.36779T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1761T>C MANE Select | NP_000485.3:p.Pro587= |
| ENST00000648076.2:c.1761T>C MANE Select | ENSP00000497653.1:p.Pro587= |
| NM_000494.3:c.1761T>C | NP_000485.3:p.Pro587= |
| ENST00000353479.9:c.1761T>C | ENSP00000340937.5:p.Pro587= |
| ENST00000369733.7:c.1761T>C | ENSP00000358748.3:p.Pro587= |
| ENST00000369733.8:c.1761T>C | ENSP00000358748.3:p.Pro587= |
| ENST00000650263.1:c.1713T>C | ENSP00000497850.1:p.Pro571= |