Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473466G>C , CM000685.2:g.134473466G>C | GRCh38 |
| NC_000023.10:g.133607496G>C , CM000685.1:g.133607496G>C | GRCh37 |
| NC_000023.9:g.133435162G>C | NCBI36 |
| NG_012329.1:g.18322G>C | |
| NG_012329.2:g.18322G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.134+1G>C MANE Select | NP_000185.1:n.134+1G>C |
| ENST00000298556.8:c.134+1G>C MANE Select | ENSP00000298556.7:n.134+1G>C |
| NM_000194.2:c.134+1G>C | NP_000185.1:n.134+1G>C |
| ENST00000298556.7:c.134+1G>C | ENSP00000298556.7:n.134+1G>C |
| ENST00000462974.5:n.292+1G>C | |
| ENST00000475720.1:n.92+1G>C | |
| XM_011531328.1:c.152+1G>C | XP_011529630.1:n.152+1G>C |