Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151028379G= , CM000667.2:g.151028379G= | GRCh38 |
| NC_000005.9:g.150407940G= , CM000667.1:g.150407940G= | GRCh37 |
| NC_000005.8:g.150388133G= | NCBI36 |
| NG_030590.1:g.64282C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002084.5:c.*249G= MANE Select | NP_002075.2:n.*249G= |
| ENST00000388825.9:c.*249G= MANE Select | ENSP00000373477.4:n.*249G= |
| NM_001329790.1:c.*249G= | NP_001316719.1:n.*249G= |
| NM_001329790.2:c.*249G= | NP_001316719.1:n.*249G= |
| NM_002084.3:c.*249G= | NP_002075.2:n.*249G= |
| NM_002084.4:c.*249G= | NP_002075.2:n.*249G= |
| ENST00000388825.8:c.*249G= | ENSP00000373477.4:n.*249G= |
| ENST00000521632.1:c.739G= | |
| ENST00000614343.4:c.*711G= | ENSP00000483660.1:n.*711G= |
| ENST00000622181.4:c.*249G= | ENSP00000484258.1:n.*249G= |