Linked Data
ClinVar Variation Id:
2185990
ClinVar RCV Id:
RCV002632634
dbSNP Id:
rs750868997
ExAC:
11:2187870 G / A
gnomAD v2:
11-2187870-G-A
gnomAD v4:
11-2166640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166640G>A , CM000673.2:g.2166640G>A | GRCh38 |
| NC_000011.9:g.2187870G>A , CM000673.1:g.2187870G>A | GRCh37 |
| NC_000011.8:g.2144446G>A | NCBI36 |
| NG_008128.1:g.10166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.970C>T MANE Select | ENSP00000325951.4:p.Pro324Ser | |
| ENST00000324155.8:c.*659C>T | ENSP00000325831.3:n.*659C>T | |
| ENST00000333684.9:c.696-91C>T | ENSP00000328814.6:n.696-91C>T | |
| ENST00000352909.7:c.970C>T | ENSP00000325951.3:p.Pro324Ser | |
| ENST00000381168.7:c.*690C>T | ENSP00000370560.3:n.*690C>T | |
| ENST00000381175.5:c.1051C>T | ENSP00000370567.1:p.Pro351Ser | |
| ENST00000381178.5:c.1063C>T | ENSP00000370571.1:p.Pro355Ser | |
| ENST00000412076.1:c.136-91C>T | ||
| ENST00000416223.5:c.264C>T | ||
| ENST00000461172.1:n.135C>T | ||
| ENST00000479437.5:n.519C>T | ||
| NM_000360.3:c.970C>T | NP_000351.2:p.Pro324Ser | |
| NM_199292.2:c.1063C>T | NP_954986.2:p.Pro355Ser | |
| NM_199293.2:c.1051C>T | NP_954987.2:p.Pro351Ser | |
| XM_011520335.1:c.982C>T | XP_011518637.1:p.Pro328Ser | |
| XM_011520335.2:c.982C>T | XP_011518637.1:p.Pro328Ser | |
| NM_000360.4:c.970C>T MANE Select | NP_000351.2:p.Pro324Ser | |
| NM_199292.3:c.1063C>T | NP_954986.2:p.Pro355Ser | |
| NM_199293.3:c.1051C>T | NP_954987.2:p.Pro351Ser |