Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122230A>G , CM000668.2:g.18122230A>G | GRCh38 |
| NC_000006.11:g.18122461A>G , CM000668.1:g.18122461A>G | GRCh37 |
| NC_000006.10:g.18230440A>G | NCBI36 |
| NG_016750.1:g.5391T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.377T>C MANE Select | NP_940988.2:p.Leu126Pro |
| ENST00000340650.6:c.377T>C MANE Select | ENSP00000345464.3:p.Leu126Pro |
| NM_198586.2:c.377T>C | NP_940988.2:p.Leu126Pro |
| ENST00000340650.4:c.377T>C | ENSP00000345464.3:p.Leu126Pro |