dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960164A>C , CM000667.2:g.63960164A>C | GRCh38 |
| NC_000005.9:g.63255991A>C , CM000667.1:g.63255991A>C | GRCh37 |
| NC_000005.8:g.63291747A>C | NCBI36 |
| NG_032816.1:g.7129T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*287T>G MANE Select | ENSP00000316244.4:n.*287T>G | |
| NM_000524.3:c.*287T>G | NP_000515.2:n.*287T>G | |
| NM_000524.4:c.*287T>G MANE Select | NP_000515.2:n.*287T>G |