Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.674806C= , CM000667.2:g.674806C= | GRCh38 |
| NC_000005.9:g.674921C= , CM000667.1:g.674921C= | GRCh37 |
| NC_000005.8:g.727921C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007030.3:c.311+2944G= MANE Select | NP_008961.1:n.311+2944G= |
| ENST00000360578.7:c.311+2944G= MANE Select | ENSP00000353785.5:n.311+2944G= |
| NM_007030.2:c.311+2944G= | NP_008961.1:n.311+2944G= |
| ENST00000360578.6:c.311+2944G= | ENSP00000353785.5:n.311+2944G= |
| XM_005248237.2:c.311+2944G= | XP_005248294.2:n.311+2944G= |
| XM_005248237.3:c.311+2944G= | XP_005248294.2:n.311+2944G= |
| XM_017008993.1:c.512+2944G= | XP_016864482.1:n.512+2944G= |
| XM_024454346.1:c.311+2944G= | XP_024310114.1:n.311+2944G= |