Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220605A>G , CM000684.2:g.50220605A>G | GRCh38 |
| NC_000022.10:g.50659034A>G , CM000684.1:g.50659034A>G | GRCh37 |
| NC_000022.9:g.49001161A>G | NCBI36 |
| NG_032160.1:g.29367T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3754T>C MANE Select | ENSP00000248846.5:p.Leu1252= | |
| ENST00000248846.9:c.3754T>C | ENSP00000248846.5:p.Leu1252= | |
| ENST00000439308.6:c.3754T>C | ENSP00000397387.2:p.Leu1252= | |
| ENST00000491449.5:n.2061T>C | ||
| ENST00000498611.5:n.3618-590T>C | ||
| NM_020461.3:c.3754T>C | NP_065194.2:p.Leu1252= | |
| XR_938347.1:n.4319T>C | ||
| XR_938348.1:n.3050-590T>C | ||
| XR_001755343.2:n.4323T>C | ||
| XR_001755344.2:n.4323T>C | ||
| XR_002958720.1:n.3054-590T>C | ||
| XR_938347.2:n.4323T>C | ||
| NM_020461.4:c.3754T>C MANE Select | NP_065194.3:p.Leu1252= |