Linked Data
ClinVar Variation Id:
2741390
ClinVar RCV Id:
RCV003509203
dbSNP Id:
rs202091972
ExAC:
22:19906510 C / T
gnomAD v2:
22-19906510-C-T
gnomAD v4:
22-19918987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918987C>T , CM000684.2:g.19918987C>T | GRCh38 |
| NC_000022.10:g.19906510C>T , CM000684.1:g.19906510C>T | GRCh37 |
| NC_000022.9:g.18286510C>T | NCBI36 |
| NG_011835.1:g.27850G>A , LRG_417:g.27850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.247G>A MANE Select | ENSP00000383365.1:p.Gly83Ser | |
| ENST00000334363.14:c.247G>A | ENSP00000334451.9:p.Gly83Ser | |
| ENST00000400518.5:c.157G>A | ENSP00000383362.1:p.Gly53Ser | |
| ENST00000400519.6:c.244G>A | ENSP00000383363.1:p.Gly82Ser | |
| ENST00000400521.6:c.247G>A | ENSP00000383365.1:p.Gly83Ser | |
| ENST00000400525.6:c.178G>A | ENSP00000383369.3:p.Gly60Ser | |
| ENST00000474308.5:c.190G>A | ENSP00000485665.1:p.Gly64Ser | |
| ENST00000491939.6:c.151G>A | ENSP00000485543.1:p.Gly51Ser | |
| ENST00000496729.2:n.252G>A | ||
| ENST00000542719.6:c.-42G>A | ENSP00000485128.2:n.-42G>A | |
| NM_001282512.1:c.247G>A | NP_001269441.1:p.Gly83Ser | |
| NM_006440.4:c.247G>A | NP_006431.2:p.Gly83Ser | |
| NM_001282512.2:c.247G>A | NP_001269441.1:p.Gly83Ser | |
| NM_001352300.1:c.244G>A | NP_001339229.1:p.Gly82Ser | |
| NM_001352301.1:c.157G>A | NP_001339230.1:p.Gly53Ser | |
| NM_001352302.1:c.-42G>A | NP_001339231.1:n.-42G>A | |
| NM_001352303.1:c.151G>A | NP_001339232.1:p.Gly51Ser | |
| NR_147957.1:n.379G>A | ||
| NM_006440.5:c.247G>A MANE Select | NP_006431.2:p.Gly83Ser | |
| NM_001282512.3:c.247G>A | NP_001269441.1:p.Gly83Ser | |
| NM_001352300.2:c.244G>A | NP_001339229.1:p.Gly82Ser | |
| NR_147957.2:n.205G>A | ||
| NM_001352301.2:c.157G>A | NP_001339230.1:p.Gly53Ser | |
| NM_001352302.2:c.-42G>A | NP_001339231.1:n.-42G>A | |
| NM_001352303.2:c.151G>A | NP_001339232.1:p.Gly51Ser |