Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644266T>C , CM000671.2:g.133644266T>C | GRCh38 |
| NC_000009.11:g.136509388T>C , CM000671.1:g.136509388T>C | GRCh37 |
| NC_000009.10:g.135499209T>C | NCBI36 |
| NG_008645.1:g.12904T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.970T>C MANE Select | ENSP00000376776.2:p.Ser324Pro | |
| ENST00000393056.6:c.970T>C | ENSP00000376776.2:p.Ser324Pro | |
| NM_000787.3:c.970T>C | NP_000778.3:p.Ser324Pro | |
| NM_000787.4:c.970T>C MANE Select | NP_000778.3:p.Ser324Pro |