Linked Data
dbSNP Id:
rs370038696
ExAC:
22:38106527 G / A
gnomAD v2:
22-38106527-G-A
gnomAD v3:
22-37710520-G-A
gnomAD v4:
22-37710520-G-A
COSMIC:
COSM1190445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710520G>A , CM000684.2:g.37710520G>A | GRCh38 |
| NC_000022.10:g.38106527G>A , CM000684.1:g.38106527G>A | GRCh37 |
| NC_000022.9:g.36436473G>A | NCBI36 |
| NG_012857.1:g.18533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.208G>A MANE Select | ENSP00000496394.1:p.Gly70Ser | |
| ENST00000344404.10:c.208G>A | ENSP00000340312.6:p.Gly70Ser | |
| ENST00000406386.7:c.208G>A | ENSP00000384312.3:p.Gly70Ser | |
| ENST00000455236.4:c.1165G>A | ENSP00000477208.1:n.1165G>A | |
| ENST00000492485.5:n.344G>A | ||
| NM_001039141.2:c.208G>A | NP_001034230.1:p.Gly70Ser | |
| NM_001039141.3:c.208G>A MANE Select | NP_001034230.1:p.Gly70Ser |