Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104037654C>T , CM000672.2:g.104037654C>T | GRCh38 |
| NC_000010.10:g.105797412C>T , CM000672.1:g.105797412C>T | GRCh37 |
| NC_000010.9:g.105787402C>T | NCBI36 |
| NG_007069.1:g.53227G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.3190G>A MANE Select | NP_000485.3:p.Val1064Ile |
| ENST00000648076.2:c.3190G>A MANE Select | ENSP00000497653.1:p.Val1064Ile |
| NM_000494.3:c.3190G>A | NP_000485.3:p.Val1064Ile |
| ENST00000353479.9:c.3190G>A | ENSP00000340937.5:p.Val1064Ile |
| ENST00000369733.7:c.3055G>A | ENSP00000358748.3:p.Val1019Ile |
| ENST00000369733.8:c.3055G>A | ENSP00000358748.3:p.Val1019Ile |