Linked Data
dbSNP Id:
rs763289367
ExAC:
12:7945726 A / G
gnomAD v2:
12-7945726-A-G
gnomAD v3:
12-7793130-A-G
gnomAD v4:
12-7793130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793130A>G , CM000674.2:g.7793130A>G | GRCh38 |
| NC_000012.11:g.7945726A>G , CM000674.1:g.7945726A>G | GRCh37 |
| NC_000012.10:g.7836993A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.332A>G MANE Select | ENSP00000229307.4:p.Asn111Ser | |
| ENST00000229307.8:c.332A>G | ENSP00000229307.4:p.Asn111Ser | |
| ENST00000526286.1:c.332A>G | ENSP00000435288.1:p.Asn111Ser | |
| ENST00000526434.2:n.476A>G | ||
| ENST00000541267.5:c.260A>G | ENSP00000444434.1:p.Asn87Ser | |
| NM_001297698.1:c.332A>G | NP_001284627.1:p.Asn111Ser | |
| NM_024865.3:c.332A>G | NP_079141.2:p.Asn111Ser | |
| XM_011520850.1:c.332A>G | XP_011519152.1:p.Asn111Ser | |
| XM_011520851.1:c.260A>G | XP_011519153.1:p.Asn87Ser | |
| XM_011520852.1:c.-41A>G | XP_011519154.1:n.-41A>G | |
| NM_024865.4:c.332A>G MANE Select | NP_079141.2:p.Asn111Ser | |
| NM_001297698.2:c.332A>G | NP_001284627.1:p.Asn111Ser |