Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44832296A>G , CM000663.2:g.44832296A>G | GRCh38 |
| NC_000001.10:g.45297968A>G , CM000663.1:g.45297968A>G | GRCh37 |
| NC_000001.9:g.45070555A>G | NCBI36 |
| NG_013369.1:g.15649T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.311T>C MANE Select | NP_003729.3:p.Leu104Pro |
| ENST00000372192.4:c.311T>C MANE Select | ENSP00000361266.3:p.Leu104Pro |
| NM_001166292.1:c.311T>C | NP_001159764.1:p.Leu104Pro |
| NM_001166292.2:c.311T>C | NP_001159764.1:p.Leu104Pro |
| NM_003738.4:c.311T>C | NP_003729.3:p.Leu104Pro |
| ENST00000372192.3:c.311T>C | ENSP00000361266.3:p.Leu104Pro |
| ENST00000447098.6:c.311T>C | ENSP00000389703.2:p.Leu104Pro |