Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58356639C>A , CM000681.2:g.58356639C>A | GRCh38 |
| NC_000019.9:g.58868005C>A , CM000681.1:g.58868005C>A | GRCh37 |
| NC_000019.8:g.63559817C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311044.8:c.997G>T MANE Select | ENSP00000311183.2:p.Ala333Ser | |
| ENST00000311044.7:c.997G>T | ENSP00000311183.2:p.Ala333Ser | |
| ENST00000425453.3:c.997G>T | ENSP00000402815.2:p.Ala333Ser | |
| NM_001207009.1:c.997G>T | NP_001193938.1:p.Ala333Ser | |
| NM_198458.2:c.997G>T | NP_940860.2:p.Ala333Ser | |
| NM_198458.3:c.997G>T MANE Select | NP_940860.2:p.Ala333Ser | |
| NM_001207009.2:c.997G>T | NP_001193938.1:p.Ala333Ser |