Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58357416G>C , CM000681.2:g.58357416G>C | GRCh38 |
| NC_000019.9:g.58868782G>C , CM000681.1:g.58868782G>C | GRCh37 |
| NC_000019.8:g.63560594G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311044.8:c.220C>G MANE Select | ENSP00000311183.2:p.Leu74Val | |
| ENST00000311044.7:c.220C>G | ENSP00000311183.2:p.Leu74Val | |
| ENST00000425453.3:c.220C>G | ENSP00000402815.2:p.Leu74Val | |
| NM_001207009.1:c.220C>G | NP_001193938.1:p.Leu74Val | |
| NM_198458.2:c.220C>G | NP_940860.2:p.Leu74Val | |
| NM_198458.3:c.220C>G MANE Select | NP_940860.2:p.Leu74Val | |
| NM_001207009.2:c.220C>G | NP_001193938.1:p.Leu74Val |