Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1421997A>G , CM000667.2:g.1421997A>G | GRCh38 |
| NC_000005.9:g.1422112A>G , CM000667.1:g.1422112A>G | GRCh37 |
| NC_000005.8:g.1475112A>G | NCBI36 |
| NG_015885.1:g.28432T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.671T>C MANE Select | NP_001035.1:p.Leu224Pro |
| ENST00000270349.12:c.671T>C MANE Select | ENSP00000270349.9:p.Leu224Pro |
| NM_001044.4:c.671T>C | NP_001035.1:p.Leu224Pro |
| ENST00000270349.11:c.671T>C | ENSP00000270349.9:p.Leu224Pro |