Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29275449A>G , CM000664.2:g.29275449A>G | GRCh38 |
| NC_000002.11:g.29498315A>G , CM000664.1:g.29498315A>G | GRCh37 |
| NC_000002.10:g.29351819A>G | NCBI36 |
| NG_009445.1:g.651118T>C , LRG_488:g.651118T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1865T>C MANE Select | NP_004295.2:p.Ile622Thr |
| ENST00000389048.8:c.1865T>C MANE Select | ENSP00000373700.3:p.Ile622Thr |
| NM_004304.4:c.1865T>C | NP_004295.2:p.Ile622Thr |
| ENST00000389048.7:c.1865T>C | ENSP00000373700.3:p.Ile622Thr |
| ENST00000618119.4:c.734T>C | ENSP00000482733.1:p.Ile245Thr |
| XR_001738688.2:n.2795T>C |