Linked Data
ClinVar Variation Id:
740951
ClinVar RCV Id:
RCV001858573
dbSNP Id:
rs747123916
ExAC:
11:2188130 G / C
gnomAD v2:
11-2188130-G-C
gnomAD v3:
11-2166900-G-C
gnomAD v4:
11-2166900-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166900G>C , CM000673.2:g.2166900G>C | GRCh38 |
| NC_000011.9:g.2188130G>C , CM000673.1:g.2188130G>C | GRCh37 |
| NC_000011.8:g.2144706G>C | NCBI36 |
| NG_008128.1:g.9906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.828C>G MANE Select | ENSP00000325951.4:p.Ser276= | |
| ENST00000324155.8:c.*517C>G | ENSP00000325831.3:n.*517C>G | |
| ENST00000333684.9:c.696-351C>G | ENSP00000328814.6:n.696-351C>G | |
| ENST00000352909.7:c.828C>G | ENSP00000325951.3:p.Ser276= | |
| ENST00000381168.7:c.*548C>G | ENSP00000370560.3:n.*548C>G | |
| ENST00000381175.5:c.909C>G | ENSP00000370567.1:p.Ser303= | |
| ENST00000381178.5:c.921C>G | ENSP00000370571.1:p.Ser307= | |
| ENST00000412076.1:c.136-351C>G | ||
| ENST00000416223.5:c.136-132C>G | ||
| ENST00000469226.1:n.957C>G | ||
| ENST00000479437.5:n.377C>G | ||
| NM_000360.3:c.828C>G | NP_000351.2:p.Ser276= | |
| NM_199292.2:c.921C>G | NP_954986.2:p.Ser307= | |
| NM_199293.2:c.909C>G | NP_954987.2:p.Ser303= | |
| XM_011520335.1:c.840C>G | XP_011518637.1:p.Ser280= | |
| XM_011520335.2:c.840C>G | XP_011518637.1:p.Ser280= | |
| NM_000360.4:c.828C>G MANE Select | NP_000351.2:p.Ser276= | |
| NM_199292.3:c.921C>G | NP_954986.2:p.Ser307= | |
| NM_199293.3:c.909C>G | NP_954987.2:p.Ser303= |