Linked Data
ClinVar Variation Id:
1520611
ClinVar RCV Id:
RCV002030851
dbSNP Id:
rs1402562231
gnomAD v2:
1-197404267-G-A
gnomAD v4:
1-197435137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197435137G>A , CM000663.2:g.197435137G>A | GRCh38 |
| NC_000001.10:g.197404267G>A , CM000663.1:g.197404267G>A | GRCh37 |
| NC_000001.9:g.195670890G>A | NCBI36 |
| NG_008483.1:g.171860G>A | |
| NG_008483.2:g.238676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.3274G>A MANE Select | ENSP00000356370.3:p.Gly1092Ser | |
| ENST00000638467.1:c.3274G>A | ENSP00000491102.1:p.Gly1092Ser | |
| ENST00000681519.1:c.2155G>A | ENSP00000505267.1:p.Gly719Ser | |
| ENST00000367397.1:c.1417G>A | ENSP00000356367.1:p.Gly473Ser | |
| ENST00000367399.6:c.2938G>A | ENSP00000356369.2:p.Gly980Ser | |
| ENST00000367400.7:c.3274G>A | ENSP00000356370.3:p.Gly1092Ser | |
| ENST00000484075.5:c.3274G>A | ENSP00000433932.1:p.Gly1092Ser | |
| ENST00000535699.5:c.3202G>A | ENSP00000438786.1:p.Gly1068Ser | |
| ENST00000538660.5:c.2129-463G>A | ENSP00000438091.1:n.2129-463G>A | |
| NM_001193640.1:c.2938G>A | NP_001180569.1:p.Gly980Ser | |
| NM_001257965.1:c.3202G>A | NP_001244894.1:p.Gly1068Ser | |
| NM_001257966.1:c.2129-463G>A | NP_001244895.1:n.2129-463G>A | |
| NM_201253.2:c.3274G>A | NP_957705.1:p.Gly1092Ser | |
| NR_047563.1:n.3275G>A | ||
| NR_047564.1:n.3483G>A | ||
| XM_011509365.1:c.3274G>A | XP_011507667.1:p.Gly1092Ser | |
| XM_011509366.1:c.3274G>A | XP_011507668.1:p.Gly1092Ser | |
| XM_011509367.1:c.3274G>A | XP_011507669.1:p.Gly1092Ser | |
| XM_011509368.1:c.2692G>A | XP_011507670.1:p.Gly898Ser | |
| XM_011509369.1:c.1717G>A | XP_011507671.1:p.Gly573Ser | |
| XM_011509365.2:c.3274G>A | XP_011507667.1:p.Gly1092Ser | |
| XM_011509369.2:c.1717G>A | XP_011507671.1:p.Gly573Ser | |
| XM_017000851.1:c.2431G>A | XP_016856340.1:p.Gly811Ser | |
| XM_017000852.1:c.3409G>A | XP_016856341.1:p.Gly1137Ser | |
| NM_201253.3:c.3274G>A MANE Select | NP_957705.1:p.Gly1092Ser | |
| NM_001193640.2:c.2938G>A | NP_001180569.1:p.Gly980Ser | |
| NM_001257965.2:c.3202G>A | NP_001244894.1:p.Gly1068Ser | |
| NR_047563.2:n.3227G>A | ||
| NR_047564.2:n.3435G>A | ||
| NM_001257966.2:c.2129-463G>A | NP_001244895.1:n.2129-463G>A |