Linked Data
ClinVar Variation Id:
284333
ClinVar RCV Id:
RCV000260006
dbSNP Id:
rs199802935
ExAC:
22:45921523 G / A
gnomAD v2:
22-45921523-G-A
gnomAD v3:
22-45525643-G-A
gnomAD v4:
22-45525643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45525643G>A , CM000684.2:g.45525643G>A | GRCh38 |
| NC_000022.10:g.45921523G>A , CM000684.1:g.45921523G>A | GRCh37 |
| NC_000022.9:g.44300187G>A | NCBI36 |
| NG_023308.2:g.27805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327858.11:c.286G>A MANE Select | ENSP00000331544.6:p.Gly96Ser | |
| ENST00000262722.11:c.286G>A | ENSP00000262722.7:p.Gly96Ser | |
| ENST00000327858.10:c.286G>A | ENSP00000331544.6:p.Gly96Ser | |
| ENST00000340923.9:c.286G>A | ENSP00000342212.5:p.Gly96Ser | |
| ENST00000402984.7:c.400G>A | ENSP00000385521.3:p.Gly134Ser | |
| ENST00000411478.5:c.310G>A | ENSP00000415289.1:p.Gly104Ser | |
| ENST00000442170.6:c.286G>A | ENSP00000393812.2:p.Gly96Ser | |
| ENST00000445110.5:c.160G>A | ENSP00000404024.1:p.Gly54Ser | |
| ENST00000451475.5:c.106G>A | ENSP00000415160.1:p.Gly36Ser | |
| ENST00000454279.5:c.160G>A | ENSP00000414584.1:p.Gly54Ser | |
| ENST00000455233.5:c.286G>A | ENSP00000402963.1:p.Gly96Ser | |
| NM_001996.3:c.286G>A | NP_001987.2:p.Gly96Ser | |
| NM_006485.3:c.286G>A | NP_006476.2:p.Gly96Ser | |
| NM_006486.2:c.286G>A | NP_006477.2:p.Gly96Ser | |
| NM_006487.2:c.286G>A | NP_006478.2:p.Gly96Ser | |
| NM_006486.3:c.286G>A MANE Select | NP_006477.3:p.Gly96Ser | |
| NM_001996.4:c.286G>A | NP_001987.3:p.Gly96Ser | |
| NM_006485.4:c.286G>A | NP_006476.3:p.Gly96Ser | |
| NM_006487.3:c.286G>A | NP_006478.3:p.Gly96Ser |