Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124321G>A , CM000664.2:g.208124321G>A | GRCh38 |
| NC_000002.11:g.208989045G>A , CM000664.1:g.208989045G>A | GRCh37 |
| NC_000002.10:g.208697290G>A | NCBI36 |
| NG_008039.1:g.5269C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264376.5:c.43C>T MANE Select | ENSP00000264376.4:p.Arg15Cys | |
| ENST00000264376.4:c.43C>T | ENSP00000264376.4:p.Arg15Cys | |
| NM_006891.3:c.43C>T | NP_008822.2:p.Arg15Cys | |
| NR_038437.1:n.97+5096G>A | ||
| NM_006891.4:c.43C>T MANE Select | NP_008822.2:p.Arg15Cys |