Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689394C>A , CM000667.2:g.74689394C>A | GRCh38 |
| NC_000005.9:g.73985219C>A , CM000667.1:g.73985219C>A | GRCh37 |
| NC_000005.8:g.74020975C>A | NCBI36 |
| NG_009770.1:g.9251C>A | |
| NG_009770.2:g.54372C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.366C>A MANE Select | ENSP00000261416.7:p.Thr122= | |
| ENST00000261416.11:c.366C>A | ENSP00000261416.7:p.Thr122= | |
| ENST00000511181.5:c.-310C>A | ENSP00000426285.1:n.-310C>A | |
| ENST00000513079.5:n.431C>A | ||
| ENST00000515528.1:n.421C>A | ||
| NM_000521.3:c.366C>A | NP_000512.1:p.Thr122= | |
| NM_001292004.1:c.-310C>A | NP_001278933.1:n.-310C>A | |
| NM_000521.4:c.366C>A MANE Select | NP_000512.2:p.Thr122= | |
| NM_001292004.2:c.-310C>A | NP_001278933.1:n.-310C>A |