Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034101T= , CM000672.2:g.104034101T= | GRCh38 |
| NC_000010.10:g.105793859T= , CM000672.1:g.105793859T= | GRCh37 |
| NC_000010.9:g.105783849T= | NCBI36 |
| NG_007069.1:g.56780A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.4000A= MANE Select | NP_000485.3:p.Arg1334= |
| ENST00000648076.2:c.4000A= MANE Select | ENSP00000497653.1:p.Arg1334= |
| NM_000494.3:c.4000A= | NP_000485.3:p.Arg1334= |
| ENST00000353479.9:c.4000A= | ENSP00000340937.5:p.Arg1334= |
| ENST00000369733.7:c.3754A= | ENSP00000358748.3:p.Arg1252= |
| ENST00000369733.8:c.3754A= | ENSP00000358748.3:p.Arg1252= |
| ENST00000647647.1:c.30A= |