Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647215A>C , CM000669.2:g.100647215A>C | GRCh38 |
| NC_000007.13:g.100244838A>C , CM000669.1:g.100244838A>C | GRCh37 |
| NC_000007.12:g.100082774A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.821+8T>G MANE Select | ENSP00000160382.5:n.821+8T>G | |
| ENST00000160382.9:c.821+8T>G | ENSP00000160382.5:n.821+8T>G | |
| ENST00000487125.1:n.357+8T>G | ||
| NM_016188.4:c.821+8T>G | NP_057272.1:n.821+8T>G | |
| XR_927476.1:n.928+8T>G | ||
| NR_134539.1:n.928+8T>G | ||
| NM_016188.5:c.821+8T>G MANE Select | NP_057272.1:n.821+8T>G | |
| NR_134539.2:n.915+8T>G |