Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30608572A= , CM000665.2:g.30608572A= | GRCh38 |
| NC_000003.11:g.30650064A= , CM000665.1:g.30650064A= | GRCh37 |
| NC_000003.10:g.30625068A= | NCBI36 |
| NG_007490.1:g.7071A= , LRG_779:g.7071A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003242.6:c.94+1595A= MANE Select | NP_003233.4:n.94+1595A= |
| ENST00000295754.10:c.94+1595A= MANE Select | ENSP00000295754.5:n.94+1595A= |
| NM_001024847.2:c.94+1595A= , LRG_779t1:c.94+1595A= | NP_001020018.1:n.94+1595A= |
| NM_003242.5:c.94+1595A= | NP_003233.4:n.94+1595A= |
| ENST00000295754.9:c.94+1595A= | ENSP00000295754.5:n.94+1595A= |
| ENST00000359013.4:c.94+1595A= | ENSP00000351905.4:n.94+1595A= |
| XM_011534045.1:c.-12+1979A= | XP_011532347.1:n.-12+1979A= |
| XM_011534045.3:c.-12+1979A= | XP_011532347.1:n.-12+1979A= |