Linked Data
ClinVar Variation Id:
1794781
ClinVar RCV Id:
RCV002428938
dbSNP Id:
rs1313908318
gnomAD v2:
22-19906489-C-T
gnomAD v4:
22-19918966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918966C>T , CM000684.2:g.19918966C>T | GRCh38 |
| NC_000022.10:g.19906489C>T , CM000684.1:g.19906489C>T | GRCh37 |
| NC_000022.9:g.18286489C>T | NCBI36 |
| NG_011835.1:g.27871G>A , LRG_417:g.27871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.268G>A MANE Select | ENSP00000383365.1:p.Gly90Ser | |
| ENST00000334363.14:c.268G>A | ENSP00000334451.9:p.Gly90Ser | |
| ENST00000400518.5:c.178G>A | ENSP00000383362.1:p.Gly60Ser | |
| ENST00000400519.6:c.265G>A | ENSP00000383363.1:p.Gly89Ser | |
| ENST00000400521.6:c.268G>A | ENSP00000383365.1:p.Gly90Ser | |
| ENST00000400525.6:c.199G>A | ENSP00000383369.3:p.Gly67Ser | |
| ENST00000474308.5:c.211G>A | ENSP00000485665.1:p.Gly71Ser | |
| ENST00000491939.6:c.172G>A | ENSP00000485543.1:p.Gly58Ser | |
| ENST00000496729.2:n.273G>A | ||
| ENST00000542719.6:c.-21G>A | ENSP00000485128.2:n.-21G>A | |
| NM_001282512.1:c.268G>A | NP_001269441.1:p.Gly90Ser | |
| NM_006440.4:c.268G>A | NP_006431.2:p.Gly90Ser | |
| NM_001282512.2:c.268G>A | NP_001269441.1:p.Gly90Ser | |
| NM_001352300.1:c.265G>A | NP_001339229.1:p.Gly89Ser | |
| NM_001352301.1:c.178G>A | NP_001339230.1:p.Gly60Ser | |
| NM_001352302.1:c.-21G>A | NP_001339231.1:n.-21G>A | |
| NM_001352303.1:c.172G>A | NP_001339232.1:p.Gly58Ser | |
| NR_147957.1:n.400G>A | ||
| NM_006440.5:c.268G>A MANE Select | NP_006431.2:p.Gly90Ser | |
| NM_001282512.3:c.268G>A | NP_001269441.1:p.Gly90Ser | |
| NM_001352300.2:c.265G>A | NP_001339229.1:p.Gly89Ser | |
| NR_147957.2:n.226G>A | ||
| NM_001352301.2:c.178G>A | NP_001339230.1:p.Gly60Ser | |
| NM_001352302.2:c.-21G>A | NP_001339231.1:n.-21G>A | |
| NM_001352303.2:c.172G>A | NP_001339232.1:p.Gly58Ser |