Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485193T>C , CM000668.2:g.143485193T>C | GRCh38 |
| NC_000006.11:g.143806330T>C , CM000668.1:g.143806330T>C | GRCh37 |
| NC_000006.10:g.143848023T>C | NCBI36 |
| NG_008459.1:g.39413T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.983T>C MANE Select | ENSP00000356563.4:p.Ile328Thr | |
| ENST00000367591.4:c.983T>C | ENSP00000356563.4:p.Ile328Thr | |
| ENST00000585848.1:n.122T>C | ||
| NM_003630.2:c.983T>C | NP_003621.1:p.Ile328Thr | |
| NM_003630.3:c.983T>C MANE Select | NP_003621.1:p.Ile328Thr |