Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308773G= , CM000685.2:g.30308773G= | GRCh38 |
| NC_000023.10:g.30326890G= , CM000685.1:g.30326890G= | GRCh37 |
| NC_000023.9:g.30236811G= | NCBI36 |
| NG_009814.1:g.5606C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000475.5:c.591C= MANE Select | NP_000466.2:p.Tyr197= |
| ENST00000378970.5:c.591C= MANE Select | ENSP00000368253.4:p.Tyr197= |
| NM_000475.4:c.591C= | NP_000466.2:p.Tyr197= |
| ENST00000378970.4:c.591C= | ENSP00000368253.4:p.Tyr197= |