Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851209C>T , CM000664.2:g.135851209C>T | GRCh38 |
| NC_000002.11:g.136608779C>T , CM000664.1:g.136608779C>T | GRCh37 |
| NC_000002.10:g.136325249C>T | NCBI36 |
| NG_008104.2:g.8961G>A , LRG_338:g.8961G>A | |
| NG_008958.1:g.30233G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+193G>A MANE Select | ENSP00000264156.2:n.1917+193G>A | |
| ENST00000264156.2:c.1917+193G>A | ENSP00000264156.2:n.1917+193G>A | |
| ENST00000483902.1:n.544+193G>A | ||
| ENST00000492091.1:n.343+193G>A | ||
| NM_005915.5:c.1917+193G>A | NP_005906.2:n.1917+193G>A | |
| NM_005915.6:c.1917+193G>A MANE Select | NP_005906.2:n.1917+193G>A |