dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103455175T>G , CM000672.2:g.103455175T>G | GRCh38 |
| NC_000010.10:g.105214932T>G , CM000672.1:g.105214932T>G | GRCh37 |
| NC_000010.9:g.105204922T>G | NCBI36 |
| NG_016855.1:g.8717A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.*87A>C MANE Select | ENSP00000329926.6:n.*87A>C | |
| ENST00000329905.5:c.*87A>C | ENSP00000329926.5:n.*87A>C | |
| NM_001001412.3:c.*87A>C | NP_001001412.3:n.*87A>C | |
| NM_001001412.4:c.*87A>C MANE Select | NP_001001412.3:n.*87A>C |