Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117278031C= , CM000669.2:g.117278031C= | GRCh38 |
| NC_000007.13:g.116918085C= , CM000669.1:g.116918085C= | GRCh37 |
| NC_000007.12:g.116705321C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003391.3:c.*124G= MANE Select | NP_003382.1:n.*124G= |
| ENST00000265441.8:c.*124G= MANE Select | ENSP00000265441.3:n.*124G= |
| NM_003391.2:c.*124G= | NP_003382.1:n.*124G= |
| NR_024047.1:n.1443G= | |
| NR_024047.2:n.1212G= | |
| ENST00000265441.7:c.*124G= | ENSP00000265441.3:n.*124G= |
| ENST00000449446.5:c.*810G= | ENSP00000389643.1:n.*810G= |
| ENST00000647844.1:c.*1122G= | ENSP00000497695.1:n.*1122G= |