Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676058C>G , CM000669.2:g.152676058C>G | GRCh38 |
| NC_000007.13:g.152373143C>G , CM000669.1:g.152373143C>G | GRCh37 |
| NC_000007.12:g.152004076C>G | NCBI36 |
| NG_027988.1:g.5108G>C | |
| NG_027988.2:g.5108G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-65G>C | ENSP00000513758.1:n.-65G>C | |
| ENST00000698507.1:n.90G>C | ||
| ENST00000359321.2:c.22G>C MANE Select | ENSP00000352271.1:p.Ala8Pro | |
| ENST00000359321.1:c.22G>C | ENSP00000352271.1:p.Ala8Pro | |
| NM_005431.1:c.22G>C | NP_005422.1:p.Ala8Pro | |
| NM_005431.2:c.22G>C MANE Select | NP_005422.1:p.Ala8Pro |