Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95321498A>C , CM000669.2:g.95321498A>C | GRCh38 |
| NC_000007.13:g.94950810A>C , CM000669.1:g.94950810A>C | GRCh37 |
| NC_000007.12:g.94788746A>C | NCBI36 |
| NG_008779.1:g.8075T>G | |
| NG_008779.2:g.8209T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.8:c.74+2904T>G MANE Select | ENSP00000222381.3:n.74+2904T>G | |
| ENST00000222381.7:c.74+2904T>G | ENSP00000222381.3:n.74+2904T>G | |
| ENST00000433729.1:c.74+2904T>G | ENSP00000407359.1:n.74+2904T>G | |
| NM_000446.5:c.74+2904T>G | NP_000437.3:n.74+2904T>G | |
| NM_000446.6:c.74+2904T>G | NP_000437.3:n.74+2904T>G | |
| NM_000446.7:c.74+2904T>G MANE Select | NP_000437.3:n.74+2904T>G |