Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860041C>G , CM000668.2:g.31860041C>G | GRCh38 |
| NC_000006.11:g.31827818C>G , CM000668.1:g.31827818C>G | GRCh37 |
| NC_000006.10:g.31935797C>G | NCBI36 |
| NG_008201.1:g.7892G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.1021+1G>C MANE Select | NP_000425.1:n.1021+1G>C |
| ENST00000375631.5:c.1021+1G>C MANE Select | ENSP00000364782.4:n.1021+1G>C |
| NM_000434.3:c.1021+1G>C | NP_000425.1:n.1021+1G>C |
| ENST00000375631.4:c.1021+1G>C | ENSP00000364782.4:n.1021+1G>C |
| ENST00000480384.1:n.1225G>C | |
| ENST00000491768.5:c.*131+1G>C | ENSP00000433127.1:n.*131+1G>C |
| ENST00000495807.1:n.2329+1G>C | |
| ENST00000677054.1:n.2265G>C | |
| ENST00000677512.1:n.1298+6G>C | |
| ENST00000678869.1:n.1609+1G>C |