Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104055912T>G , CM000672.2:g.104055912T>G | GRCh38 |
| NC_000010.10:g.105815670T>G , CM000672.1:g.105815670T>G | GRCh37 |
| NC_000010.9:g.105805660T>G | NCBI36 |
| NG_007069.1:g.34969A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1557A>C MANE Select | NP_000485.3:p.Ile519= |
| ENST00000648076.2:c.1557A>C MANE Select | ENSP00000497653.1:p.Ile519= |
| NM_000494.3:c.1557A>C | NP_000485.3:p.Ile519= |
| ENST00000353479.9:c.1557A>C | ENSP00000340937.5:p.Ile519= |
| ENST00000369733.7:c.1557A>C | ENSP00000358748.3:p.Ile519= |
| ENST00000369733.8:c.1557A>C | ENSP00000358748.3:p.Ile519= |
| ENST00000480127.1:n.64A>C | |
| ENST00000480127.2:n.58A>C | |
| ENST00000650263.1:c.1509A>C | ENSP00000497850.1:p.Ile503= |