Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479930G>C , CM000669.2:g.117479930G>C | GRCh38 |
| NC_000007.13:g.117119984G>C , CM000669.1:g.117119984G>C | GRCh37 |
| NC_000007.12:g.116907220G>C | NCBI36 |
| NG_016465.4:g.19147G>C , LRG_663:g.19147G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446805.2:c.-191+236G>C | ENSP00000417012.1:n.-191+236G>C | |
| ENST00000673785.1:c.-406+14099G>C | ENSP00000501235.1:n.-406+14099G>C | |
| ENST00000446805.1:c.-191+236G>C | ENSP00000417012.1:n.-191+236G>C | |
| ENST00000546407.1:n.166+4122G>C | ||
| XM_011515751.1:c.143+585G>C | XP_011514053.1:n.143+585G>C | |
| XM_011515752.1:c.143+585G>C | XP_011514054.1:n.143+585G>C | |
| XM_011515753.1:c.-191+236G>C | XP_011514055.1:n.-191+236G>C | |
| XM_011515754.1:c.-518-218G>C | XP_011514056.1:n.-518-218G>C |