Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23117529A>G , CM000676.2:g.23117529A>G | GRCh38 |
| NC_000014.8:g.23586738A>G , CM000676.1:g.23586738A>G | GRCh37 |
| NC_000014.7:g.22656578A>G | NCBI36 |
| NG_009617.1:g.6737T>C , LRG_45:g.6737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.773T>C | ||
| ENST00000696122.1:n.550T>C | ||
| ENST00000206513.6:c.804T>C MANE Select | ENSP00000206513.5:p.Pro268= | |
| ENST00000206513.5:c.804T>C | ENSP00000206513.5:p.Pro268= | |
| NM_001805.3:c.804T>C | NP_001796.2:p.Pro268= | |
| XM_011536359.1:c.759T>C | XP_011534661.1:p.Pro253= | |
| NM_001805.4:c.804T>C MANE Select | NP_001796.2:p.Pro268= |