Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160032954T>C , CM000668.2:g.160032954T>C | GRCh38 |
| NC_000006.11:g.160453986T>C , CM000668.1:g.160453986T>C | GRCh37 |
| NC_000006.10:g.160373976T>C | NCBI36 |
| NG_011785.3:g.68856T>C | |
| NG_011785.4:g.68856T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356956.6:c.1058T>C MANE Select | ENSP00000349437.1:p.Ile353Thr | |
| ENST00000649737.1:n.295T>C | ||
| ENST00000676781.1:c.1058T>C | ENSP00000504419.1:p.Ile353Thr | |
| ENST00000677704.1:c.1058T>C | ENSP00000503314.1:p.Ile353Thr | |
| ENST00000356956.5:c.1058T>C | ENSP00000349437.1:p.Ile353Thr | |
| NM_000876.2:c.1058T>C | NP_000867.2:p.Ile353Thr | |
| XR_942419.1:n.1073T>C | ||
| NM_000876.3:c.1058T>C | NP_000867.2:p.Ile353Thr | |
| NM_000876.4:c.1058T>C MANE Select | NP_000867.3:p.Ile353Thr |