Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50178227T>C , CM000684.2:g.50178227T>C | GRCh38 |
| NC_000022.10:g.50616656T>C , CM000684.1:g.50616656T>C | GRCh37 |
| NC_000022.9:g.48958783T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395842.3:c.1515T>C MANE Select | ENSP00000379183.2:p.Pro505= | |
| ENST00000159647.9:c.1515T>C | ENSP00000159647.5:p.Pro505= | |
| ENST00000395842.2:c.1515T>C | ENSP00000379183.2:p.Pro505= | |
| ENST00000402472.2:c.1536T>C | ENSP00000384148.2:n.1536T>C | |
| NM_001160300.1:c.1515T>C | NP_001153772.1:p.Pro505= | |
| NM_052839.3:c.1515T>C | NP_443071.2:p.Pro505= | |
| NR_027691.1:n.1566T>C | ||
| NM_001160300.2:c.1515T>C | NP_001153772.1:p.Pro505= | |
| NM_052839.4:c.1515T>C MANE Select | NP_443071.2:p.Pro505= | |
| NR_027691.2:n.1566T>C |