Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447677A>G , CM000668.2:g.49447677A>G | GRCh38 |
| NC_000006.11:g.49415390A>G , CM000668.1:g.49415390A>G | GRCh37 |
| NC_000006.10:g.49523349A>G | NCBI36 |
| NG_007100.1:g.20463T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.1553T>C MANE Select | ENSP00000274813.3:p.Leu518Pro | |
| ENST00000274813.3:c.1553T>C | ENSP00000274813.3:p.Leu518Pro | |
| NM_000255.3:c.1553T>C | NP_000246.2:p.Leu518Pro | |
| XM_005249143.2:c.1553T>C | XP_005249200.1:p.Leu518Pro | |
| XM_005249143.3:c.1553T>C | XP_005249200.1:p.Leu518Pro | |
| NM_000255.4:c.1553T>C MANE Select | NP_000246.2:p.Leu518Pro |