Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292402G>C , CM000683.2:g.44292402G>C | GRCh38 |
| NC_000021.8:g.45712285G>C , CM000683.1:g.45712285G>C | GRCh37 |
| NC_000021.7:g.44536713G>C | NCBI36 |
| NG_009556.1:g.11523G>C , LRG_18:g.11523G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1095+1G>C MANE Select | NP_000374.1:n.1095+1G>C |
| ENST00000291582.6:c.1095+1G>C MANE Select | ENSP00000291582.5:n.1095+1G>C |
| NM_000383.3:c.1095+1G>C | NP_000374.1:n.1095+1G>C |
| ENST00000291582.5:c.1095+1G>C | ENSP00000291582.5:n.1095+1G>C |
| ENST00000337909.5:n.556+1G>C | |
| ENST00000397994.8:n.556+1G>C | |
| ENST00000527919.5:n.1825+1G>C | |
| ENST00000530812.5:n.2842+1G>C | |
| XM_011529551.1:c.1092+1G>C | XP_011527853.1:n.1092+1G>C |