Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49625145T>C , CM000681.2:g.49625145T>C | GRCh38 |
| NC_000019.9:g.50128402T>C , CM000681.1:g.50128402T>C | GRCh37 |
| NC_000019.8:g.54820214T>C | NCBI36 |
| NG_051202.1:g.38969T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418929.7:c.5909T>C MANE Select | ENSP00000394510.1:p.Leu1970Pro | |
| ENST00000418929.6:c.5909T>C | ENSP00000394510.1:p.Leu1970Pro | |
| ENST00000615927.1:c.3446T>C | ENSP00000478000.1:p.Leu1149Pro | |
| NM_020719.1:c.5909T>C | NP_065770.1:p.Leu1970Pro | |
| NM_020719.2:c.5909T>C | NP_065770.1:p.Leu1970Pro | |
| XR_002958340.1:n.5720T>C | ||
| NM_020719.3:c.5909T>C MANE Select | NP_065770.1:p.Leu1970Pro |