Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879138G>C , CM000664.2:g.240879138G>C | GRCh38 |
| NC_000002.11:g.241818555G>C , CM000664.1:g.241818555G>C | GRCh37 |
| NC_000002.10:g.241467228G>C | NCBI36 |
| NG_008005.1:g.15394G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*317G>C MANE Select | ENSP00000302620.3:n.*317G>C | |
| ENST00000470255.1:n.1274G>C | ||
| NM_000030.3:c.*317G>C MANE Select | NP_000021.1:n.*317G>C |