Linked Data
ClinVar Variation Id:
130839
dbSNP Id:
rs2241645
ExAC:
15:85333953 A / G
gnomAD v2:
15-85333953-A-G
gnomAD v3:
15-84790722-A-G
gnomAD v4:
15-84790722-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84790722A>G , CM000677.2:g.84790722A>G | GRCh38 |
| NC_000015.9:g.85333953A>G , CM000677.1:g.85333953A>G | GRCh37 |
| NC_000015.8:g.83134957A>G | NCBI36 |
| NG_028094.1:g.47136A>G | |
| NG_028094.2:g.47136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560079.7:c.2238A>G MANE Select | ENSP00000452877.2:p.Gln746= | |
| ENST00000299927.4:c.2238A>G | ENSP00000299927.3:p.Gln746= | |
| ENST00000559607.1:c.2238A>G | ENSP00000453491.1:p.Gln746= | |
| ENST00000560079.6:c.2238A>G | ENSP00000452877.2:p.Gln746= | |
| NM_014630.2:c.2238A>G | NP_055445.2:p.Gln746= | |
| XM_005254996.2:c.2238A>G | XP_005255053.1:p.Gln746= | |
| XM_011522246.1:c.2238A>G | XP_011520548.1:p.Gln746= | |
| XM_011522247.1:c.2238A>G | XP_011520549.1:p.Gln746= | |
| XM_011522248.1:c.2238A>G | XP_011520550.1:p.Gln746= | |
| XR_931951.1:n.2600A>G | ||
| XM_005254996.3:c.2238A>G | XP_005255053.1:p.Gln746= | |
| XM_011522246.2:c.2238A>G | XP_011520548.1:p.Gln746= | |
| XM_011522247.2:c.2238A>G | XP_011520549.1:p.Gln746= | |
| XM_011522248.2:c.2238A>G | XP_011520550.1:p.Gln746= | |
| XM_017022734.1:c.2238A>G | XP_016878223.1:p.Gln746= | |
| XR_931951.2:n.2605A>G | ||
| NM_014630.3:c.2238A>G MANE Select | NP_055445.2:p.Gln746= |