Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942014A>C , CM000674.2:g.71942014A>C | GRCh38 |
| NC_000012.11:g.72335794A>C , CM000674.1:g.72335794A>C | GRCh37 |
| NC_000012.10:g.70622061A>C | NCBI36 |
| NG_008279.1:g.8169A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.255+281A>C MANE Select | NP_775489.2:n.255+281A>C |
| ENST00000333850.4:c.255+281A>C MANE Select | ENSP00000329093.3:n.255+281A>C |
| NM_173353.3:c.255+281A>C | NP_775489.2:n.255+281A>C |
| ENST00000333850.3:c.255+281A>C | ENSP00000329093.3:n.255+281A>C |
| ENST00000546576.1:n.265+281A>C | |
| XR_001748575.1:n.355+281A>C | |
| XR_245894.2:n.355+281A>C |