dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73952003C>G , CM000677.2:g.73952003C>G | GRCh38 |
| NC_000015.9:g.74244344C>G , CM000677.1:g.74244344C>G | GRCh37 |
| NC_000015.8:g.72031397C>G | NCBI36 |
| NG_011466.1:g.30556C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.*166C>G MANE Select | ENSP00000261921.7:n.*166C>G | |
| ENST00000261921.7:c.*166C>G | ENSP00000261921.7:n.*166C>G | |
| ENST00000562548.1:n.976C>G | ||
| ENST00000567675.1:n.327C>G | ||
| NM_005576.2:c.*166C>G | NP_005567.2:n.*166C>G | |
| XR_931824.1:n.2408C>G | ||
| NM_005576.3:c.*166C>G | NP_005567.2:n.*166C>G | |
| XM_017022179.1:c.*166C>G | XP_016877668.1:n.*166C>G | |
| XR_931824.2:n.2397C>G | ||
| NM_005576.4:c.*166C>G MANE Select | NP_005567.2:n.*166C>G |