Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71575920A>G , CM000678.2:g.71575920A>G | GRCh38 |
| NC_000016.9:g.71609823A>G , CM000678.1:g.71609823A>G | GRCh37 |
| NC_000016.8:g.70167324A>G | NCBI36 |
| NG_008235.1:g.6176T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.340+2T>C MANE Select | NP_000344.1:n.340+2T>C |
| ENST00000355962.5:c.340+2T>C MANE Select | ENSP00000348234.4:n.340+2T>C |
| NM_000353.2:c.340+2T>C | NP_000344.1:n.340+2T>C |
| ENST00000355962.4:c.340+2T>C | ENSP00000348234.4:n.340+2T>C |
| ENST00000566010.1:n.592T>C | |
| ENST00000566094.5:n.438T>C |