dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65979586G>C , CM000673.2:g.65979586G>C | GRCh38 |
| NC_000011.9:g.65747057G>C , CM000673.1:g.65747057G>C | GRCh37 |
| NC_000011.8:g.65503633G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312397.10:c.*556G>C MANE Select | ENSP00000310448.5:n.*556G>C | |
| ENST00000312397.9:c.*556G>C | ENSP00000310448.5:n.*556G>C | |
| NM_005146.4:c.*556G>C | NP_005137.1:n.*556G>C | |
| NM_005146.5:c.*556G>C MANE Select | NP_005137.1:n.*556G>C |