Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74693641A>C , CM000667.2:g.74693641A>C | GRCh38 |
| NC_000005.9:g.73989466A>C , CM000667.1:g.73989466A>C | GRCh37 |
| NC_000005.8:g.74025222A>C | NCBI36 |
| NG_009770.1:g.13498A>C | |
| NG_009770.2:g.58619A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.448A>C MANE Select | NP_000512.2:p.Thr150Pro |
| ENST00000261416.12:c.448A>C MANE Select | ENSP00000261416.7:p.Thr150Pro |
| NM_000521.3:c.448A>C | NP_000512.1:p.Thr150Pro |
| NM_001292004.1:c.-228A>C | NP_001278933.1:n.-228A>C |
| NM_001292004.2:c.-228A>C | NP_001278933.1:n.-228A>C |
| ENST00000261416.11:c.448A>C | ENSP00000261416.7:p.Thr150Pro |
| ENST00000510820.1:n.167A>C | |
| ENST00000511181.5:c.-228A>C | ENSP00000426285.1:n.-228A>C |
| ENST00000513079.5:n.513A>C |