Linked Data
dbSNP Id:
rs1160474276
gnomAD v2:
11-62766552-C-G
gnomAD v3:
11-62999080-C-G
gnomAD v4:
11-62999080-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62999080C>G , CM000673.2:g.62999080C>G | GRCh38 |
| NC_000011.9:g.62766552C>G , CM000673.1:g.62766552C>G | GRCh37 |
| NC_000011.8:g.62523128C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.602G>C MANE Select | ENSP00000337335.2:p.Trp201Ser | |
| ENST00000311438.12:c.602G>C | ENSP00000311463.8:p.Trp201Ser | |
| ENST00000336232.6:c.602G>C | ENSP00000337335.2:p.Trp201Ser | |
| ENST00000430500.6:c.602G>C | ENSP00000398548.2:p.Trp201Ser | |
| ENST00000535878.5:c.233G>C | ENSP00000443368.1:p.Trp78Ser | |
| ENST00000539841.1:n.420G>C | ||
| ENST00000542795.5:n.323G>C | ||
| ENST00000542904.1:n.442G>C | ||
| ENST00000545207.5:c.329G>C | ENSP00000441658.1:p.Trp110Ser | |
| NM_001184732.1:c.602G>C | NP_001171661.1:p.Trp201Ser | |
| NM_001184733.1:c.329G>C | NP_001171662.1:p.Trp110Ser | |
| NM_001184736.1:c.233G>C | NP_001171665.1:p.Trp78Ser | |
| NM_004254.3:c.602G>C | NP_004245.2:p.Trp201Ser | |
| XM_011545364.1:c.233G>C | XP_011543666.1:p.Trp78Ser | |
| NM_004254.4:c.602G>C MANE Select | NP_004245.2:p.Trp201Ser | |
| NM_001184732.2:c.602G>C | NP_001171661.1:p.Trp201Ser | |
| NM_001184733.2:c.329G>C | NP_001171662.1:p.Trp110Ser | |
| NM_001184736.2:c.233G>C | NP_001171665.1:p.Trp78Ser |