Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145269G>A , CM000664.2:g.74145269G>A | GRCh38 |
| NC_000002.11:g.74372396G>A , CM000664.1:g.74372396G>A | GRCh37 |
| NC_000002.10:g.74225904G>A | NCBI36 |
| NG_031910.1:g.7644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.89C>T MANE Select | ENSP00000331369.5:p.Thr30Ile | |
| ENST00000295326.4:c.89C>T | ENSP00000295326.4:p.Thr30Ile | |
| ENST00000327428.9:c.89C>T | ENSP00000331369.5:p.Thr30Ile | |
| ENST00000469676.1:n.1112C>T | ||
| ENST00000477685.5:n.240C>T | ||
| ENST00000484655.1:n.2644C>T | ||
| NM_001035505.1:c.89C>T | NP_001030582.1:p.Thr30Ile | |
| NM_212552.2:c.89C>T | NP_997717.2:p.Thr30Ile | |
| NM_212552.3:c.89C>T MANE Select | NP_997717.2:p.Thr30Ile | |
| NM_001035505.2:c.89C>T | NP_001030582.1:p.Thr30Ile |