Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659332G>T , CM000685.2:g.136659332G>T | GRCh38 |
| NC_000023.10:g.135741491G>T , CM000685.1:g.135741491G>T | GRCh37 |
| NC_000023.9:g.135569157G>T | NCBI36 |
| NG_007280.1:g.16156G>T , LRG_141:g.16156G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*321G>T | ENSP00000512122.1:n.*321G>T | |
| ENST00000695725.1:c.*258G>T | ENSP00000512123.1:n.*258G>T | |
| ENST00000695726.1:n.2671G>T | ||
| ENST00000695729.1:n.3506G>T | ||
| ENST00000370629.7:c.703G>T MANE Select | ENSP00000359663.2:p.Ala235Ser | |
| ENST00000370628.2:c.640G>T | ENSP00000359662.2:p.Ala214Ser | |
| ENST00000370629.6:c.703G>T | ENSP00000359663.2:p.Ala235Ser | |
| NM_000074.2:c.703G>T , LRG_141t1:c.703G>T | NP_000065.1:p.Ala235Ser | |
| NM_000074.3:c.703G>T MANE Select | NP_000065.1:p.Ala235Ser |