Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89766285G= , CM000670.2:g.89766285G= | GRCh38 |
| NC_000008.10:g.90778513G= , CM000670.1:g.90778513G= | GRCh37 |
| NC_000008.9:g.90847650G= | NCBI36 |
| NG_033016.1:g.13539G= | |
| NG_033016.2:g.13539G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003821.6:c.483+789G= MANE Select | NP_003812.1:n.483+789G= |
| ENST00000220751.5:c.483+789G= MANE Select | ENSP00000220751.4:n.483+789G= |
| NM_001375360.1:c.72+789G= | NP_001362289.1:n.72+789G= |
| NM_003821.5:c.483+789G= | NP_003812.1:n.483+789G= |
| ENST00000220751.4:c.483+789G= | ENSP00000220751.4:n.483+789G= |
| ENST00000522965.1:c.*122+789G= | ENSP00000429271.1:n.*122+789G= |
| XM_005251092.2:c.72+789G= | XP_005251149.1:n.72+789G= |
| XM_005251092.3:c.72+789G= | XP_005251149.1:n.72+789G= |