Linked Data
ClinVar Variation Id:
324418
dbSNP Id:
rs367916721
ExAC:
17:61574527 G / A
gnomAD v2:
17-61574527-G-A
gnomAD v3:
17-63497166-G-A
gnomAD v4:
17-63497166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497166G>A , CM000679.2:g.63497166G>A | GRCh38 |
| NC_000017.10:g.61574527G>A , CM000679.1:g.61574527G>A | GRCh37 |
| NC_000017.9:g.58928259G>A | NCBI36 |
| NG_011648.1:g.25094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3721G>A MANE Select | ENSP00000290866.4:p.Gly1241Ser | |
| ENST00000290863.10:c.1999G>A | ENSP00000290863.6:p.Gly667Ser | |
| ENST00000290866.9:c.3721G>A | ENSP00000290866.4:p.Gly1241Ser | |
| ENST00000413513.7:c.1876G>A | ENSP00000392247.3:p.Gly626Ser | |
| ENST00000428043.5:c.*143G>A | ENSP00000397593.2:n.*143G>A | |
| ENST00000577647.2:c.1969+181G>A | ENSP00000464149.1:n.1969+181G>A | |
| ENST00000578839.5:c.*1476G>A | ENSP00000462110.2:n.*1476G>A | |
| ENST00000579314.5:c.*1450G>A | ENSP00000462599.1:n.*1450G>A | |
| NM_000789.3:c.3721G>A | NP_000780.1:p.Gly1241Ser | |
| NM_001178057.1:c.1876G>A | NP_001171528.1:p.Gly626Ser | |
| NM_152830.2:c.1999G>A | NP_690043.1:p.Gly667Ser | |
| XM_005257110.1:c.3172G>A | XP_005257167.1:p.Gly1058Ser | |
| XM_006721737.2:c.2059G>A | XP_006721800.2:p.Gly687Ser | |
| XM_006721737.3:c.2059G>A | XP_006721800.2:p.Gly687Ser | |
| NM_000789.4:c.3721G>A MANE Select | NP_000780.1:p.Gly1241Ser | |
| NM_001178057.2:c.1876G>A | NP_001171528.1:p.Gly626Ser | |
| NM_152830.3:c.1999G>A | NP_690043.1:p.Gly667Ser | |
| NM_001382700.1:c.3154G>A | NP_001369629.1:p.Gly1052Ser | |
| NM_001382701.1:c.2869G>A | NP_001369630.1:p.Gly957Ser | |
| NM_001382702.1:c.1336G>A | NP_001369631.1:p.Gly446Ser | |
| NR_168483.1:n.2099G>A |