Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658843A>C , CM000668.2:g.24658843A>C | GRCh38 |
| NC_000006.11:g.24659071A>C , CM000668.1:g.24659071A>C | GRCh37 |
| NC_000006.10:g.24767050A>C | NCBI36 |
| NG_052787.1:g.13045T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016614.3:c.252-109T>G MANE Select | NP_057698.2:n.252-109T>G |
| ENST00000378198.9:c.252-109T>G MANE Select | ENSP00000367440.4:n.252-109T>G |
| NM_016614.2:c.252-109T>G | NP_057698.2:n.252-109T>G |
| ENST00000341060.3:c.78-109T>G | ENSP00000345345.3:n.78-109T>G |
| ENST00000378198.8:c.252-109T>G | ENSP00000367440.4:n.252-109T>G |
| ENST00000478285.1:n.330T>G | |
| ENST00000478507.1:n.320-5690T>G | |
| XR_926244.1:n.379-109T>G |