Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527959T>C , CM000681.2:g.7527959T>C | GRCh38 |
| NC_000019.9:g.7592845T>C , CM000681.1:g.7592845T>C | GRCh37 |
| NC_000019.8:g.7498845T>C | NCBI36 |
| NG_015806.1:g.10350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.776T>C MANE Select | ENSP00000264079.5:p.Leu259Pro | |
| ENST00000264079.10:c.776T>C | ENSP00000264079.5:p.Leu259Pro | |
| ENST00000394321.9:n.1091T>C | ||
| NM_020533.2:c.776T>C | NP_065394.1:p.Leu259Pro | |
| NM_020533.3:c.776T>C MANE Select | NP_065394.1:p.Leu259Pro |