Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859738C>G , CM000668.2:g.31859738C>G | GRCh38 |
| NC_000006.11:g.31827515C>G , CM000668.1:g.31827515C>G | GRCh37 |
| NC_000006.10:g.31935494C>G | NCBI36 |
| NG_008201.1:g.8195G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1229G>C MANE Select | ENSP00000364782.4:p.Ser410Thr | |
| ENST00000677054.1:n.2568G>C | ||
| ENST00000677512.1:n.1506G>C | ||
| ENST00000678869.1:n.1817G>C | ||
| ENST00000375631.4:c.1229G>C | ENSP00000364782.4:p.Ser410Thr | |
| ENST00000480384.1:n.1528G>C | ||
| ENST00000491768.5:c.*339G>C | ENSP00000433127.1:n.*339G>C | |
| ENST00000495807.1:n.2537G>C | ||
| NM_000434.3:c.1229G>C | NP_000425.1:p.Ser410Thr | |
| NM_000434.4:c.1229G>C MANE Select | NP_000425.1:p.Ser410Thr |