Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994808G>T , CM000667.2:g.178994808G>T | GRCh38 |
| NC_000005.9:g.178421809G>T , CM000667.1:g.178421809G>T | GRCh37 |
| NC_000005.8:g.178354415G>T | NCBI36 |
| NG_008105.1:g.5316C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.137C>A MANE Select | NP_000834.2:p.Pro46Gln |
| ENST00000517717.3:c.137C>A MANE Select | ENSP00000430767.1:p.Pro46Gln |
| NM_000843.3:c.137C>A | NP_000834.2:p.Pro46Gln |
| ENST00000231188.9:c.137C>A | ENSP00000231188.5:p.Pro46Gln |
| ENST00000517717.1:c.137C>A | ENSP00000430767.1:p.Pro46Gln |
| ENST00000650031.1:c.137C>A | ENSP00000497110.1:p.Pro46Gln |