Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32784824C>T , CM000671.2:g.32784824C>T | GRCh38 |
| NC_000009.11:g.32784822C>T , CM000671.1:g.32784822C>T | GRCh37 |
| NC_000009.10:g.32774822C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_212558.3:c.641C>T MANE Select | NP_997723.2:p.Pro214Leu |
| ENST00000342743.6:c.641C>T MANE Select | ENSP00000345468.5:p.Pro214Leu |
| NM_212558.2:c.641C>T | NP_997723.2:p.Pro214Leu |
| ENST00000342743.5:c.641C>T | ENSP00000345468.5:p.Pro214Leu |
| XR_929252.1:n.1006C>T | |
| XR_929253.1:n.1006C>T |