Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94405688C>T , CM000669.2:g.94405688C>T | GRCh38 |
| NC_000007.13:g.94035000C>T , CM000669.1:g.94035000C>T | GRCh37 |
| NC_000007.12:g.93872936C>T | NCBI36 |
| NG_007405.1:g.16128C>T , LRG_2:g.16128C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.502C>T MANE Select | NP_000080.2:p.Pro168Ser |
| ENST00000297268.11:c.502C>T MANE Select | ENSP00000297268.6:p.Pro168Ser |
| NM_000089.3:c.502C>T , LRG_2t1:c.502C>T | NP_000080.2:p.Pro168Ser |
| ENST00000297268.10:c.502C>T | ENSP00000297268.6:p.Pro168Ser |
| ENST00000620463.1:c.496C>T | ENSP00000477719.1:p.Pro166Ser |