Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860038T= , CM000668.2:g.31860038T= | GRCh38 |
| NC_000006.11:g.31827815T= , CM000668.1:g.31827815T= | GRCh37 |
| NC_000006.10:g.31935794T= | NCBI36 |
| NG_008201.1:g.7895A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1021+4A= MANE Select | ENSP00000364782.4:n.1021+4A= | |
| ENST00000677054.1:n.2268A= | ||
| ENST00000677512.1:n.1298+9A= | ||
| ENST00000678869.1:n.1609+4A= | ||
| ENST00000375631.4:c.1021+4A= | ENSP00000364782.4:n.1021+4A= | |
| ENST00000480384.1:n.1228A= | ||
| ENST00000491768.5:c.*131+4A= | ENSP00000433127.1:n.*131+4A= | |
| ENST00000495807.1:n.2329+4A= | ||
| NM_000434.3:c.1021+4A= | NP_000425.1:n.1021+4A= | |
| NM_000434.4:c.1021+4A= MANE Select | NP_000425.1:n.1021+4A= |