Linked Data
ClinVar Variation Id:
380035
dbSNP Id:
rs2224391
ExAC:
6:5260936 A / C
gnomAD v2:
6-5260936-A-C
gnomAD v3:
6-5260703-A-C
gnomAD v4:
6-5260703-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5260703A>C , CM000668.2:g.5260703A>C | GRCh38 |
| NC_000006.11:g.5260936A>C , CM000668.1:g.5260936A>C | GRCh37 |
| NC_000006.10:g.5205935A>C | NCBI36 |
| NG_033003.1:g.4353A>C | |
| NG_051651.1:g.5248T>G | |
| NG_033003.2:g.4353A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330636.9:c.31T>G MANE Select | ENSP00000418787.1:p.Ser11Ala | |
| ENST00000330636.8:c.31T>G | ENSP00000418787.1:p.Ser11Ala | |
| ENST00000455814.2:n.19T>G | ||
| ENST00000464010.5:c.31T>G | ENSP00000420026.1:p.Ser11Ala | |
| ENST00000468929.5:c.31T>G | ENSP00000418321.1:p.Ser11Ala | |
| ENST00000480566.5:c.31T>G | ENSP00000419928.1:p.Ser11Ala | |
| ENST00000500576.4:c.31T>G | ENSP00000443900.3:p.Ser11Ala | |
| NM_001164840.2:c.31T>G | NP_001158312.1:p.Ser11Ala | |
| NM_001164841.2:c.31T>G | NP_001158313.1:p.Ser11Ala | |
| NM_020408.5:c.31T>G | NP_065141.3:p.Ser11Ala | |
| NR_104417.1:n.248T>G | ||
| NR_104418.1:n.248T>G | ||
| XM_005249237.3:c.31T>G | XP_005249294.1:p.Ser11Ala | |
| XM_005249239.2:c.31T>G | XP_005249296.1:p.Ser11Ala | |
| XM_006715151.1:c.31T>G | XP_006715214.1:p.Ser11Ala | |
| XM_011514758.1:c.31T>G | XP_011513060.1:p.Ser11Ala | |
| NM_001318782.1:c.31T>G | NP_001305711.1:p.Ser11Ala | |
| NM_001318783.1:c.31T>G | NP_001305712.1:p.Ser11Ala | |
| NR_134856.1:n.248T>G | ||
| XM_017011083.2:c.31T>G | XP_016866572.1:p.Ser11Ala | |
| XM_017011084.2:c.31T>G | XP_016866573.1:p.Ser11Ala | |
| NM_001164840.3:c.31T>G | NP_001158312.1:p.Ser11Ala | |
| NM_001164841.3:c.31T>G | NP_001158313.1:p.Ser11Ala | |
| NM_020408.6:c.31T>G MANE Select | NP_065141.3:p.Ser11Ala | |
| NR_104417.2:n.248T>G |