Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147824702G>A , CM000667.2:g.147824702G>A | GRCh38 |
| NC_000005.9:g.147204265G>A , CM000667.1:g.147204265G>A | GRCh37 |
| NC_000005.8:g.147184458G>A | NCBI36 |
| NG_008356.2:g.19530C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.199C>T MANE Select | NP_001366539.1:p.Arg67Cys |
| ENST00000296695.10:c.199C>T MANE Select | ENSP00000296695.5:p.Arg67Cys |
| NM_001354966.1:c.199C>T | NP_001341895.1:p.Arg67Cys |
| NM_001354966.2:c.199C>T | NP_001341895.1:p.Arg67Cys |
| NM_003122.4:c.199C>T | NP_003113.2:p.Arg67Cys |
| NM_003122.5:c.199C>T | NP_003113.2:p.Arg67Cys |
| ENST00000296695.9:c.199C>T | ENSP00000296695.5:p.Arg67Cys |
| ENST00000505722.1:n.114C>T |