Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764361C>G , CM000674.2:g.57764361C>G | GRCh38 |
| NC_000012.11:g.58158144C>G , CM000674.1:g.58158144C>G | GRCh37 |
| NC_000012.10:g.56444411C>G | NCBI36 |
| NG_007076.1:g.7833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1217+17G>C | ENSP00000518840.1:n.1217+17G>C | |
| ENST00000713545.1:c.*141+17G>C | ENSP00000518841.1:n.*141+17G>C | |
| ENST00000228606.9:c.1136+17G>C MANE Select | ENSP00000228606.4:n.1136+17G>C | |
| ENST00000228606.8:c.1136+17G>C | ENSP00000228606.4:n.1136+17G>C | |
| ENST00000546567.5:c.431+17G>C | ENSP00000449472.1:n.431+17G>C | |
| ENST00000547344.5:n.1275+17G>C | ||
| NM_000785.3:c.1136+17G>C | NP_000776.1:n.1136+17G>C | |
| NM_000785.4:c.1136+17G>C MANE Select | NP_000776.1:n.1136+17G>C |