Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256284G= , CM000671.2:g.133256284G= | GRCh38 |
| NC_000009.11:g.136131671G= , CM000671.1:g.136131671G= | GRCh37 |
| NC_000009.10:g.135121492G= | NCBI36 |
| NG_006669.1:g.21384C= | |
| NG_006669.2:g.23932C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.476C= | ||
| ENST00000647353.1:n.54-5132C= | ||
| ENST00000651471.1:n.402C= | ||
| ENST00000679909.1:c.28+18878C= | ENSP00000506089.1:n.28+18878C= | |
| ENST00000453660.3:n.458C= | ||
| ENST00000538324.2:c.444C= | ENSP00000483018.1:p.Tyr148= | |
| ENST00000611156.4:c.444C= | ENSP00000483265.1:p.Tyr148= | |
| NM_020469.2:c.447C= | NP_065202.2:p.Tyr149= | |
| NM_020469.3:c.447C= | NP_065202.2:p.Tyr149= |