Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86743516G>A , CM000670.2:g.86743516G>A | GRCh38 |
| NC_000008.10:g.87755744G>A , CM000670.1:g.87755744G>A | GRCh37 |
| NC_000008.9:g.87824860G>A | NCBI36 |
| NG_016980.1:g.5160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.112C>T MANE Select | ENSP00000316605.5:p.Gln38Ter | |
| ENST00000681746.1:c.112C>T | ENSP00000505959.1:p.Gln38Ter | |
| ENST00000320005.5:c.112C>T | ENSP00000316605.5:p.Gln38Ter | |
| ENST00000519777.1:n.94C>T | ||
| NM_019098.4:c.112C>T | NP_061971.3:p.Gln38Ter | |
| NM_019098.5:c.112C>T MANE Select | NP_061971.3:p.Gln38Ter |