Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994696G>T , CM000667.2:g.178994696G>T | GRCh38 |
| NC_000005.9:g.178421697G>T , CM000667.1:g.178421697G>T | GRCh37 |
| NC_000005.8:g.178354303G>T | NCBI36 |
| NG_008105.1:g.5428C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.249C>A MANE Select | ENSP00000430767.1:p.Pro83= | |
| ENST00000650031.1:c.249C>A | ENSP00000497110.1:p.Pro83= | |
| ENST00000231188.9:c.249C>A | ENSP00000231188.5:p.Pro83= | |
| ENST00000517717.1:c.249C>A | ENSP00000430767.1:p.Pro83= | |
| NM_000843.3:c.249C>A | NP_000834.2:p.Pro83= | |
| NM_000843.4:c.249C>A MANE Select | NP_000834.2:p.Pro83= |