Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6707931T>G , CM000681.2:g.6707931T>G | GRCh38 |
| NC_000019.9:g.6707942T>G , CM000681.1:g.6707942T>G | GRCh37 |
| NC_000019.8:g.6658942T>G | NCBI36 |
| NG_009557.1:g.17721A>C , LRG_27:g.17721A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1846-2A>C MANE Select | NP_000055.2:n.1846-2A>C |
| ENST00000245907.11:c.1846-2A>C MANE Select | ENSP00000245907.4:n.1846-2A>C |
| NM_000064.3:c.1846-2A>C | NP_000055.2:n.1846-2A>C |
| ENST00000245907.10:c.1846-2A>C | ENSP00000245907.4:n.1846-2A>C |
| ENST00000695651.1:n.115A>C | |
| ENST00000695652.1:c.1723-2A>C | ENSP00000512083.1:n.1723-2A>C |
| ENST00000695654.1:c.970-2A>C | ENSP00000512085.1:n.970-2A>C |
| ENST00000695655.1:c.787-2A>C | ENSP00000512086.1:n.787-2A>C |
| ENST00000695692.1:n.1210-2A>C |