Linked Data
ClinVar Variation Id:
663512
dbSNP Id:
rs752099349
ExAC:
2:73799727 G / A
gnomAD v2:
2-73799727-G-A
gnomAD v4:
2-73572600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572600G>A , CM000664.2:g.73572600G>A | GRCh38 |
| NC_000002.11:g.73799727G>A , CM000664.1:g.73799727G>A | GRCh37 |
| NC_000002.10:g.73653235G>A | NCBI36 |
| NG_011690.1:g.191848G>A , LRG_741:g.191848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10342G>A | ENSP00000507671.1:p.Gly3448Arg | |
| ENST00000682801.1:c.10342G>A | ENSP00000507862.1:p.Gly3448Arg | |
| ENST00000682859.1:c.10342G>A | ENSP00000508222.1:p.Gly3448Arg | |
| ENST00000683791.1:c.3428G>A | ||
| ENST00000684460.1:c.7623G>A | ||
| ENST00000684548.1:c.10342G>A | ENSP00000507421.1:p.Gly3448Arg | |
| ENST00000684590.1:c.4789G>A | ENSP00000507376.1:p.Gly1597Arg | |
| ENST00000684656.1:c.7668G>A | ||
| ENST00000613296.6:c.10723G>A MANE Select | ENSP00000482968.1:p.Gly3575Arg | |
| ENST00000651057.1:c.877G>A | ENSP00000498504.1:p.Gly293Arg | |
| ENST00000651434.1:c.2079G>A | ||
| ENST00000651750.1:c.111G>A | ||
| ENST00000652487.1:c.1820G>A | ||
| ENST00000423048.5:c.4214G>A | ENSP00000399833.1:n.4214G>A | |
| ENST00000484298.5:c.10597G>A | ENSP00000478155.1:p.Gly3533Arg | |
| ENST00000613296.4:c.10723G>A | ENSP00000482968.1:p.Gly3575Arg | |
| ENST00000614410.4:c.10723G>A | ENSP00000479094.1:p.Gly3575Arg | |
| ENST00000620466.4:n.4526G>A | ||
| NM_015120.4:c.10726G>A , LRG_741t1:c.10726G>A | NP_055935.4:p.Gly3576Arg | |
| NM_001378454.1:c.10723G>A MANE Select | NP_001365383.1:p.Gly3575Arg |