Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103054342G>C , CM000672.2:g.103054342G>C | GRCh38 |
| NC_000010.10:g.104814099G>C , CM000672.1:g.104814099G>C | GRCh37 |
| NC_000010.9:g.104804089G>C | NCBI36 |
| NG_031932.1:g.141025G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.1779G>C MANE Select | ENSP00000358894.3:p.Thr593= | |
| ENST00000369878.8:c.1779G>C | ENSP00000358894.3:p.Thr593= | |
| ENST00000433628.2:c.1779G>C | ENSP00000392875.2:p.Thr593= | |
| NM_017649.4:c.1779G>C | NP_060119.3:p.Thr593= | |
| NM_199076.2:c.1779G>C | NP_951058.1:p.Thr593= | |
| XR_945780.1:n.1967G>C | ||
| XR_001747118.1:n.1967G>C | ||
| XR_001747119.2:n.1967G>C | ||
| XR_001747121.1:n.2062G>C | ||
| NM_017649.5:c.1779G>C MANE Select | NP_060119.3:p.Thr593= | |
| NM_199076.3:c.1779G>C | NP_951058.1:p.Thr593= |