Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926630G>C , CM000663.2:g.149926630G>C | GRCh38 |
| NC_000001.10:g.149898522G>C , CM000663.1:g.149898522G>C | GRCh37 |
| NC_000001.9:g.148165146G>C | NCBI36 |
| NG_032777.1:g.6623C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005850.5:c.452C>G MANE Select | NP_005841.1:p.Ser151Ter |
| ENST00000271628.9:c.452C>G MANE Select | ENSP00000271628.8:p.Ser151Ter |
| NM_005850.4:c.452C>G | NP_005841.1:p.Ser151Ter |
| ENST00000271628.8:c.452C>G | ENSP00000271628.8:p.Ser151Ter |
| ENST00000457312.1:c.323C>G | ENSP00000391114.1:p.Ser108Ter |