Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103550949T>C , CM000663.2:g.103550949T>C | GRCh38 |
| NC_000001.10:g.104093571T>C , CM000663.1:g.104093571T>C | GRCh37 |
| NC_000001.9:g.103895094T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.1370T>C MANE Select | ENSP00000391432.1:p.Ile457Thr | |
| ENST00000423855.6:c.1370T>C | ENSP00000391432.1:p.Ile457Thr | |
| ENST00000524631.5:c.1367T>C | ENSP00000437278.1:p.Ile456Thr | |
| ENST00000525323.1:n.118T>C | ||
| ENST00000533099.5:c.1370T>C | ENSP00000432886.1:p.Ile457Thr | |
| ENST00000533834.1:n.2476T>C | ||
| NM_017619.3:c.1370T>C | NP_060089.1:p.Ile457Thr | |
| NM_017619.4:c.1370T>C MANE Select | NP_060089.1:p.Ile457Thr |