Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155140104A>T , CM000663.2:g.155140104A>T | GRCh38 |
| NC_000001.10:g.155112580A>T , CM000663.1:g.155112580A>T | GRCh37 |
| NC_000001.9:g.153379204A>T | NCBI36 |
| NG_012871.1:g.5417T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368400.5:c.137T>A MANE Select | ENSP00000357385.5:p.Leu46Gln | |
| ENST00000341298.3:c.137T>A | ENSP00000344338.3:p.Leu46Gln | |
| ENST00000368399.1:c.227T>A | ENSP00000357384.1:p.Leu76Gln | |
| ENST00000368400.4:c.137T>A | ENSP00000357385.4:p.Leu46Gln | |
| NM_018973.3:c.227T>A | NP_061846.2:p.Leu76Gln | |
| NM_153741.1:c.137T>A | NP_714963.1:p.Leu46Gln | |
| XM_017001498.1:c.137T>A | XP_016856987.1:p.Leu46Gln | |
| NM_153741.2:c.137T>A MANE Select | NP_714963.1:p.Leu46Gln | |
| NM_018973.4:c.227T>A | NP_061846.2:p.Leu76Gln |