Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565674T>C , CM000682.2:g.57565674T>C | GRCh38 |
| NC_000020.10:g.56140730T>C , CM000682.1:g.56140730T>C | GRCh37 |
| NC_000020.9:g.55574136T>C | NCBI36 |
| NG_008205.1:g.9594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1739T>C MANE Select | ENSP00000319814.4:p.Ile580Thr | |
| ENST00000319441.5:c.1739T>C | ENSP00000319814.4:p.Ile580Thr | |
| ENST00000467047.1:n.4381T>C | ||
| NM_002591.3:c.1739T>C | NP_002582.3:p.Ile580Thr | |
| XM_011528839.1:c.1343T>C | XP_011527141.1:p.Ile448Thr | |
| XM_024451888.1:c.1343T>C | XP_024307656.1:p.Ile448Thr | |
| NM_002591.4:c.1739T>C MANE Select | NP_002582.3:p.Ile580Thr |