Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832721A>G , CM000664.2:g.112832721A>G | GRCh38 |
| NC_000002.11:g.113590298A>G , CM000664.1:g.113590298A>G | GRCh37 |
| NC_000002.10:g.113306769A>G | NCBI36 |
| NG_008851.1:g.9059T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.407T>C MANE Select | ENSP00000263341.2:p.Met136Thr | |
| ENST00000263341.6:c.407T>C | ENSP00000263341.2:p.Met136Thr | |
| ENST00000418817.5:c.407T>C | ENSP00000407219.1:p.Met136Thr | |
| ENST00000487639.1:n.308T>C | ||
| ENST00000491056.5:n.1214T>C | ||
| NM_000576.2:c.407T>C | NP_000567.1:p.Met136Thr | |
| XM_006712496.1:c.173T>C | XP_006712559.1:p.Met58Thr | |
| XM_017003988.2:c.314T>C | XP_016859477.1:p.Met105Thr | |
| NM_000576.3:c.407T>C MANE Select | NP_000567.1:p.Met136Thr |