Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256175T= , CM000671.2:g.133256175T= | GRCh38 |
| NC_000009.11:g.136131562T= , CM000671.1:g.136131562T= | GRCh37 |
| NC_000009.10:g.135121383T= | NCBI36 |
| NG_006669.1:g.21493A= | |
| NG_006669.2:g.24041A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.585A= | ||
| ENST00000647353.1:n.54-5023A= | ||
| ENST00000651471.1:n.511A= | ||
| ENST00000679909.1:c.28+18987A= | ENSP00000506089.1:n.28+18987A= | |
| ENST00000453660.3:n.567A= | ||
| ENST00000538324.2:c.553A= | ENSP00000483018.1:p.Met185= | |
| ENST00000611156.4:c.553A= | ENSP00000483265.1:p.Met185= | |
| NM_020469.2:c.556A= | NP_065202.2:p.Met186= | |
| NM_020469.3:c.556A= | NP_065202.2:p.Met186= |