Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658564G>C , CM000668.2:g.24658564G>C | GRCh38 |
| NC_000006.11:g.24658792G>C , CM000668.1:g.24658792G>C | GRCh37 |
| NC_000006.10:g.24766771G>C | NCBI36 |
| NG_052787.1:g.13324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.422C>G MANE Select | ENSP00000367440.4:p.Ala141Gly | |
| ENST00000341060.3:c.248C>G | ENSP00000345345.3:p.Ala83Gly | |
| ENST00000378198.8:c.422C>G | ENSP00000367440.4:p.Ala141Gly | |
| ENST00000478285.1:n.609C>G | ||
| ENST00000478507.1:n.320-5411C>G | ||
| NM_016614.2:c.422C>G | NP_057698.2:p.Ala141Gly | |
| XR_926244.1:n.549C>G | ||
| NM_016614.3:c.422C>G MANE Select | NP_057698.2:p.Ala141Gly |