Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137118305T>G , CM000664.2:g.137118305T>G | GRCh38 |
| NC_000002.11:g.137875875T>G , CM000664.1:g.137875875T>G | GRCh37 |
| NC_000002.10:g.137592345T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001316349.2:c.1369+3012T>G MANE Select | NP_001303278.1:n.1369+3012T>G |
| ENST00000409968.6:c.1369+3012T>G MANE Select | ENSP00000387145.1:n.1369+3012T>G |
| NM_001080427.1:c.1276+3012T>G | NP_001073896.1:n.1276+3012T>G |
| NM_001316349.1:c.1369+3012T>G | NP_001303278.1:n.1369+3012T>G |
| ENST00000272643.7:c.1369+3012T>G | ENSP00000272643.4:n.1369+3012T>G |
| ENST00000409968.5:c.1369+3012T>G | ENSP00000387145.1:n.1369+3012T>G |
| ENST00000413152.3:c.1276+3012T>G | ENSP00000413841.3:n.1276+3012T>G |