Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29057895C>A , CM000664.2:g.29057895C>A | GRCh38 |
| NC_000002.11:g.29280761C>A , CM000664.1:g.29280761C>A | GRCh37 |
| NC_000002.10:g.29134265C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379558.4:c.*5802C>A | ENSP00000368876.3:n.*5802C>A | |
| NM_001321538.2:c.*5802C>A | NP_001308467.1:n.*5802C>A | |
| NM_001321539.2:c.*5802C>A | NP_001308468.1:n.*5802C>A | |
| NM_199280.3:c.*5802C>A | NP_954974.2:n.*5802C>A |