Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861360G>C , CM000668.2:g.31861360G>C | GRCh38 |
| NC_000006.11:g.31829137G>C , CM000668.1:g.31829137G>C | GRCh37 |
| NC_000006.10:g.31937116G>C | NCBI36 |
| NG_008201.1:g.6573C>G | |
| NG_023058.1:g.22687C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.443C>G MANE Select | ENSP00000364782.4:p.Thr148Arg | |
| ENST00000677054.1:n.1120C>G | ||
| ENST00000677512.1:n.551C>G | ||
| ENST00000678869.1:n.551C>G | ||
| ENST00000375631.4:c.443C>G | ENSP00000364782.4:p.Thr148Arg | |
| ENST00000480384.1:n.472C>G | ||
| ENST00000491768.5:c.443C>G | ENSP00000433127.1:p.Thr148Arg | |
| ENST00000495807.1:n.1011C>G | ||
| NM_000434.3:c.443C>G | NP_000425.1:p.Thr148Arg | |
| NM_000434.4:c.443C>G MANE Select | NP_000425.1:p.Thr148Arg |