Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208142688C>G , CM000664.2:g.208142688C>G | GRCh38 |
| NC_000002.11:g.209007412C>G , CM000664.1:g.209007412C>G | GRCh37 |
| NC_000002.10:g.208715657C>G | NCBI36 |
| NG_028158.1:g.8466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260988.5:c.478G>C MANE Select | ENSP00000260988.4:p.Ala160Pro | |
| ENST00000260988.4:c.478G>C | ENSP00000260988.4:p.Ala160Pro | |
| NM_005210.3:c.478G>C | NP_005201.2:p.Ala160Pro | |
| NR_038437.1:n.221+5509C>G | ||
| XM_017003402.1:c.484G>C | XP_016858891.1:p.Ala162Pro | |
| NM_005210.4:c.478G>C MANE Select | NP_005201.2:p.Ala160Pro |