Linked Data
ClinVar Variation Id:
139110
dbSNP Id:
rs145463534
ExAC:
10:112771421 A / G
gnomAD v2:
10-112771421-A-G
gnomAD v3:
10-111011663-A-G
gnomAD v4:
10-111011663-A-G
ERepo:
CA293486/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111011663A>G , CM000672.2:g.111011663A>G | GRCh38 |
| NC_000010.10:g.112771421A>G , CM000672.1:g.112771421A>G | GRCh37 |
| NC_000010.9:g.112761411A>G | NCBI36 |
| NG_028922.1:g.97121A>G , LRG_753:g.97121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.1456A>G | ENSP00000265277.5:p.Ser486Gly | |
| ENST00000451838.2:c.511A>G | ENSP00000408275.2:p.Ser171Gly | |
| ENST00000685059.1:c.1594A>G | ENSP00000510210.1:p.Ser532Gly | |
| ENST00000685613.1:c.*590A>G | ENSP00000510564.1:n.*590A>G | |
| ENST00000688928.1:c.1594A>G | ENSP00000509273.1:p.Ser532Gly | |
| ENST00000689118.1:c.1594A>G | ENSP00000510554.1:p.Ser532Gly | |
| ENST00000689300.1:c.1594A>G | ENSP00000510639.1:p.Ser532Gly | |
| ENST00000689997.1:c.511A>G | ENSP00000510700.1:p.Ser171Gly | |
| ENST00000691369.1:c.1594A>G | ENSP00000509754.1:p.Ser532Gly | |
| ENST00000691441.1:c.1594A>G | ENSP00000509686.1:p.Ser532Gly | |
| ENST00000691903.1:c.*36A>G | ENSP00000510314.1:n.*36A>G | |
| ENST00000369452.9:c.1594A>G MANE Select | ENSP00000358464.5:p.Ser532Gly | |
| ENST00000265277.9:c.1456A>G | ENSP00000265277.5:p.Ser486Gly | |
| ENST00000369452.8:c.1594A>G | ENSP00000358464.4:p.Ser532Gly | |
| ENST00000451838.1:c.964A>G | ENSP00000408275.1:p.Ser322Gly | |
| ENST00000489390.1:n.808A>G | ||
| NM_001269039.1:c.1456A>G | NP_001255968.1:p.Ser486Gly | |
| NM_007373.3:c.1594A>G , LRG_753t1:c.1594A>G | NP_031399.2:p.Ser532Gly | |
| XM_011540216.1:c.511A>G | XP_011538518.1:p.Ser171Gly | |
| NM_001269039.2:c.1456A>G | NP_001255968.1:p.Ser486Gly | |
| NM_001324336.1:c.1594A>G | NP_001311265.1:p.Ser532Gly | |
| NM_001324337.1:c.1594A>G | NP_001311266.1:p.Ser532Gly | |
| NR_136749.1:n.1006A>G | ||
| NM_007373.4:c.1594A>G MANE Select | NP_031399.2:p.Ser532Gly | |
| NM_001269039.3:c.1456A>G | NP_001255968.1:p.Ser486Gly | |
| NM_001324336.2:c.1594A>G | NP_001311265.1:p.Ser532Gly | |
| NM_001324337.2:c.1594A>G | NP_001311266.1:p.Ser532Gly | |
| NR_136749.2:n.945A>G |