Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124210A>G , CM000664.2:g.71124210A>G | GRCh38 |
| NC_000002.11:g.71351340A>G , CM000664.1:g.71351340A>G | GRCh37 |
| NC_000002.10:g.71204848A>G | NCBI36 |
| NG_008977.1:g.11055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.374T>C MANE Select | ENSP00000244217.5:p.Ile125Thr | |
| ENST00000244217.5:c.374T>C | ENSP00000244217.5:p.Ile125Thr | |
| ENST00000413592.5:c.84+158T>C | ENSP00000391140.1:n.84+158T>C | |
| ENST00000486135.1:c.89T>C | ENSP00000441569.1:p.Ile30Thr | |
| ENST00000494660.6:c.89T>C | ENSP00000437361.1:p.Ile30Thr | |
| NM_032601.3:c.374T>C | NP_115990.3:p.Ile125Thr | |
| XM_005264613.2:c.216+158T>C | XP_005264670.1:n.216+158T>C | |
| XR_939729.1:n.443T>C | ||
| XR_939729.2:n.443T>C | ||
| NM_032601.4:c.374T>C MANE Select | NP_115990.3:p.Ile125Thr |