dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116696C>T , CM000663.2:g.206116696C>T | GRCh38 |
| NC_000001.10:g.206224635G>A , CM000663.1:g.206224635G>A | GRCh37 |
| NC_000001.9:g.204391258G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367126.5:c.195G>A MANE Select | ENSP00000356094.4:p.Lys65= | |
| ENST00000367126.4:c.195G>A | ENSP00000356094.4:p.Lys65= | |
| ENST00000612906.1:n.36+968G>A | ||
| NM_000707.3:c.195G>A | NP_000698.1:p.Lys65= | |
| NM_000707.4:c.195G>A | NP_000698.1:p.Lys65= | |
| NM_000707.5:c.195G>A MANE Select | NP_000698.1:p.Lys65= |