Linked Data
ClinVar Variation Id:
558576
ClinVar RCV Id:
RCV000674870
dbSNP Id:
rs1288483479
gnomAD v2:
11-2187990-C-T
gnomAD v4:
11-2166760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166760C>T , CM000673.2:g.2166760C>T | GRCh38 |
| NC_000011.9:g.2187990C>T , CM000673.1:g.2187990C>T | GRCh37 |
| NC_000011.8:g.2144566C>T | NCBI36 |
| NG_008128.1:g.10046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.850G>A MANE Select | ENSP00000325951.4:p.Gly284Ser | |
| ENST00000324155.8:c.*539G>A | ENSP00000325831.3:n.*539G>A | |
| ENST00000333684.9:c.696-211G>A | ENSP00000328814.6:n.696-211G>A | |
| ENST00000352909.7:c.850G>A | ENSP00000325951.3:p.Gly284Ser | |
| ENST00000381168.7:c.*570G>A | ENSP00000370560.3:n.*570G>A | |
| ENST00000381175.5:c.931G>A | ENSP00000370567.1:p.Gly311Ser | |
| ENST00000381178.5:c.943G>A | ENSP00000370571.1:p.Gly315Ser | |
| ENST00000412076.1:c.136-211G>A | ||
| ENST00000416223.5:c.144G>A | ||
| ENST00000461172.1:n.15G>A | ||
| ENST00000479437.5:n.399G>A | ||
| NM_000360.3:c.850G>A | NP_000351.2:p.Gly284Ser | |
| NM_199292.2:c.943G>A | NP_954986.2:p.Gly315Ser | |
| NM_199293.2:c.931G>A | NP_954987.2:p.Gly311Ser | |
| XM_011520335.1:c.862G>A | XP_011518637.1:p.Gly288Ser | |
| XM_011520335.2:c.862G>A | XP_011518637.1:p.Gly288Ser | |
| NM_000360.4:c.850G>A MANE Select | NP_000351.2:p.Gly284Ser | |
| NM_199292.3:c.943G>A | NP_954986.2:p.Gly315Ser | |
| NM_199293.3:c.931G>A | NP_954987.2:p.Gly311Ser |