Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159541A>G , CM000663.2:g.204159541A>G | GRCh38 |
| NC_000001.10:g.204128669A>G , CM000663.1:g.204128669A>G | GRCh37 |
| NC_000001.9:g.202395292A>G | NCBI36 |
| NG_012122.1:g.11797T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.547T>C MANE Select | ENSP00000272190.8:p.Leu183= | |
| ENST00000638118.1:c.433T>C | ENSP00000490307.1:p.Leu145= | |
| ENST00000272190.8:c.547T>C | ENSP00000272190.8:p.Leu183= | |
| NM_000537.3:c.547T>C | NP_000528.1:p.Leu183= | |
| NM_000537.4:c.547T>C MANE Select | NP_000528.1:p.Leu183= |