Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10079953G>A , CM000664.2:g.10079953G>A | GRCh38 |
| NC_000002.11:g.10220080G>A , CM000664.1:g.10220080G>A | GRCh37 |
| NC_000002.10:g.10137531G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001037160.3:c.271C>T MANE Select | NP_001032237.1:p.Pro91Ser |
| ENST00000381813.5:c.271C>T MANE Select | ENSP00000371234.4:p.Pro91Ser |
| NM_001037160.2:c.271C>T | NP_001032237.1:p.Pro91Ser |
| ENST00000381813.4:c.271C>T | ENSP00000371234.4:p.Pro91Ser |
| ENST00000477304.1:n.109+883C>T |