Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25591594G>C , CM000672.2:g.25591594G>C | GRCh38 |
| NC_000010.10:g.25880523G>C , CM000672.1:g.25880523G>C | GRCh37 |
| NC_000010.9:g.25920529G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376351.4:c.1892+2449G>C MANE Select | ENSP00000365529.3:n.1892+2449G>C | |
| ENST00000650135.1:c.1655+2449G>C | ENSP00000498176.1:n.1655+2449G>C | |
| ENST00000376351.3:c.1892+2449G>C | ENSP00000365529.3:n.1892+2449G>C | |
| NM_020752.2:c.1892+2449G>C | NP_065803.2:n.1892+2449G>C | |
| XR_930511.1:n.2576+2449G>C | ||
| XR_930512.1:n.2576+2449G>C | ||
| XM_017016452.2:c.332+2449G>C | XP_016871941.1:n.332+2449G>C | |
| XR_930512.3:n.2576+2449G>C | ||
| NM_020752.3:c.1892+2449G>C MANE Select | NP_065803.2:n.1892+2449G>C |