Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762755T>C , CM000672.2:g.94762755T>C | GRCh38 |
| NC_000010.10:g.96522512T>C , CM000672.1:g.96522512T>C | GRCh37 |
| NC_000010.9:g.96512502T>C | NCBI36 |
| NG_008384.2:g.5050T>C | |
| NG_008384.3:g.5075T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.50T>C MANE Select | NP_000760.1:p.Leu17Pro |
| ENST00000371321.9:c.50T>C MANE Select | ENSP00000360372.3:p.Leu17Pro |
| NM_000769.2:c.50T>C | NP_000760.1:p.Leu17Pro |
| ENST00000371321.7:c.50T>C | ENSP00000360372.3:p.Leu17Pro |
| ENST00000464755.1:c.932-12303T>C | ENSP00000483243.1:n.932-12303T>C |
| ENST00000480405.2:c.50T>C | ENSP00000483847.1:p.Leu17Pro |