Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942980G>C , CM000674.2:g.71942980G>C | GRCh38 |
| NC_000012.11:g.72336760G>C , CM000674.1:g.72336760G>C | GRCh37 |
| NC_000012.10:g.70623027G>C | NCBI36 |
| NG_008279.1:g.9135G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.255+1247G>C MANE Select | ENSP00000329093.3:n.255+1247G>C | |
| ENST00000333850.3:c.255+1247G>C | ENSP00000329093.3:n.255+1247G>C | |
| ENST00000546576.1:n.265+1247G>C | ||
| NM_173353.3:c.255+1247G>C | NP_775489.2:n.255+1247G>C | |
| XR_245894.2:n.355+1247G>C | ||
| XR_001748575.1:n.355+1247G>C | ||
| NM_173353.4:c.255+1247G>C MANE Select | NP_775489.2:n.255+1247G>C |