Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44823097A>G , CM000663.2:g.44823097A>G | GRCh38 |
| NC_000001.10:g.45288769A>G , CM000663.1:g.45288769A>G | GRCh37 |
| NC_000001.9:g.45061356A>G | NCBI36 |
| NG_013369.1:g.24848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372192.4:c.3329T>C MANE Select | ENSP00000361266.3:p.Leu1110Pro | |
| ENST00000372192.3:c.3329T>C | ENSP00000361266.3:p.Leu1110Pro | |
| ENST00000438067.5:c.90T>C | ||
| ENST00000447098.6:c.3329T>C | ENSP00000389703.2:p.Leu1110Pro | |
| NM_001166292.1:c.3329T>C | NP_001159764.1:p.Leu1110Pro | |
| NM_003738.4:c.3329T>C | NP_003729.3:p.Leu1110Pro | |
| NM_003738.5:c.3329T>C MANE Select | NP_003729.3:p.Leu1110Pro | |
| NM_001166292.2:c.3329T>C | NP_001159764.1:p.Leu1110Pro |