Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711197C>A , CM000666.2:g.5711197C>A | GRCh38 |
| NC_000004.11:g.5712924C>A , CM000666.1:g.5712924C>A | GRCh37 |
| NC_000004.10:g.5763825C>A | NCBI36 |
| NG_008843.1:g.5001C>A | |
| NG_015821.1:g.3352G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.10:c.-184C>A | ENSP00000264956.6:n.-184C>A | |
| NM_001306090.1:c.-184C>A | NP_001293019.1:n.-184C>A | |
| NM_001306092.1:c.-184C>A | NP_001293021.1:n.-184C>A | |
| NM_153717.2:c.-184C>A | NP_714928.1:n.-184C>A | |
| XM_006713865.2:c.-184C>A | XP_006713928.1:n.-184C>A | |
| XM_006713866.2:c.-184C>A | XP_006713929.1:n.-184C>A | |
| XM_011513419.1:c.-184C>A | XP_011511721.1:n.-184C>A | |
| XR_427473.2:n.7C>A | ||
| XR_427475.2:n.7C>A | ||
| XR_427476.2:n.7C>A | ||
| XR_924920.1:n.7C>A | ||
| XR_924921.1:n.7C>A | ||
| XR_924922.1:n.7C>A | ||
| XR_924923.1:n.7C>A | ||
| XR_924924.1:n.7C>A | ||
| XR_924925.1:n.7C>A | ||
| XR_924926.1:n.7C>A | ||
| XR_924927.1:n.7C>A | ||
| XR_924928.1:n.9C>A |