Linked Data
dbSNP Id:
rs775979143
ExAC:
2:112686983 A / G
gnomAD v2:
2-112686983-A-G
gnomAD v4:
2-111929406-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111929406A>G , CM000664.2:g.111929406A>G | GRCh38 |
| NC_000002.11:g.112686983A>G , CM000664.1:g.112686983A>G | GRCh37 |
| NC_000002.10:g.112403454A>G | NCBI36 |
| NG_011607.1:g.35793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.348A>G MANE Select | ENSP00000295408.4:p.Ser116= | |
| ENST00000295408.8:c.348A>G | ENSP00000295408.4:p.Ser116= | |
| ENST00000409780.5:c.-46-15554A>G | ENSP00000387277.1:n.-46-15554A>G | |
| ENST00000421804.6:c.348A>G | ENSP00000389152.2:p.Ser116= | |
| ENST00000439966.5:c.246+102A>G | ENSP00000402129.1:n.246+102A>G | |
| ENST00000616902.4:c.-868A>G | ENSP00000482824.1:n.-868A>G | |
| NM_006343.2:c.348A>G | NP_006334.2:p.Ser116= | |
| XM_005263565.3:c.348A>G | XP_005263622.1:p.Ser116= | |
| XM_005263568.3:c.348A>G | XP_005263625.1:p.Ser116= | |
| XM_011510490.1:c.159A>G | XP_011508792.1:p.Ser53= | |
| XM_005263565.4:c.348A>G | XP_005263622.1:p.Ser116= | |
| XM_005263568.4:c.348A>G | XP_005263625.1:p.Ser116= | |
| XM_011510490.3:c.159A>G | XP_011508792.1:p.Ser53= | |
| XM_017003164.1:c.159A>G | XP_016858653.1:p.Ser53= | |
| XM_017003165.2:c.-920A>G | XP_016858654.1:n.-920A>G | |
| NM_006343.3:c.348A>G MANE Select | NP_006334.2:p.Ser116= |