Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5993906C>T , CM000674.2:g.5993906C>T | GRCh38 |
| NC_000012.11:g.6103072C>T , CM000674.1:g.6103072C>T | GRCh37 |
| NC_000012.10:g.5973333C>T | NCBI36 |
| NG_009072.1:g.135765G>A | |
| NG_009072.2:g.135765G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.6554G>A MANE Select | NP_000543.3:p.Arg2185Gln |
| ENST00000261405.10:c.6554G>A MANE Select | ENSP00000261405.5:p.Arg2185Gln |
| NM_000552.3:c.6554G>A | NP_000543.2:p.Arg2185Gln |
| NM_000552.4:c.6554G>A | NP_000543.2:p.Arg2185Gln |
| ENST00000261405.9:c.6554G>A | ENSP00000261405.5:p.Arg2185Gln |
| ENST00000538635.5:n.449G>A |