Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536370T>C , CM000680.2:g.31536370T>C | GRCh38 |
| NC_000018.9:g.29116333T>C , CM000680.1:g.29116333T>C | GRCh37 |
| NC_000018.8:g.27370331T>C | NCBI36 |
| NG_007072.3:g.43129T>C , LRG_397:g.43129T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1592T>C MANE Select | NP_001934.2:p.Phe531Ser |
| ENST00000261590.13:c.1592T>C MANE Select | ENSP00000261590.8:p.Phe531Ser |
| NM_001943.3:c.1592T>C , LRG_397t1:c.1592T>C | NP_001934.2:p.Phe531Ser |
| NM_001943.4:c.1592T>C | NP_001934.2:p.Phe531Ser |
| ENST00000261590.12:c.1592T>C | ENSP00000261590.8:p.Phe531Ser |
| XM_024451095.1:c.1058T>C | XP_024306863.1:p.Phe353Ser |