Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561724C>T , CM000668.2:g.108561724C>T | GRCh38 |
| NC_000006.11:g.108882927C>T , CM000668.1:g.108882927C>T | GRCh37 |
| NC_000006.10:g.108989620C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.516C>T MANE Select | ENSP00000385824.1:p.Ser172= | |
| ENST00000343882.10:c.516C>T | ENSP00000339527.6:p.Ser172= | |
| ENST00000406360.1:c.516C>T | ENSP00000385824.1:p.Ser172= | |
| NM_001455.3:c.516C>T | NP_001446.1:p.Ser172= | |
| NM_201559.2:c.516C>T | NP_963853.1:p.Ser172= | |
| NM_001455.4:c.516C>T MANE Select | NP_001446.1:p.Ser172= | |
| NM_201559.3:c.516C>T | NP_963853.1:p.Ser172= |