Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160606796C>G , CM000668.2:g.160606796C>G | GRCh38 |
| NC_000006.11:g.161027828C>G , CM000668.1:g.161027828C>G | GRCh37 |
| NC_000006.10:g.160947818C>G | NCBI36 |
| NG_016147.1:g.64580G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005577.4:c.2604-138G>C MANE Select | NP_005568.2:n.2604-138G>C |
| ENST00000316300.10:c.2604-138G>C MANE Select | ENSP00000321334.6:n.2604-138G>C |
| NM_005577.2:c.2604-138G>C | NP_005568.2:n.2604-138G>C |
| NM_005577.3:c.2604-138G>C | NP_005568.2:n.2604-138G>C |
| ENST00000316300.9:c.2604-138G>C | ENSP00000321334.5:n.2604-138G>C |
| ENST00000447678.2:c.345-138G>C | ENSP00000395608.2:n.345-138G>C |