Linked Data
ClinVar Variation Id:
139527
dbSNP Id:
rs202187871
ExAC:
7:124499043 C / T
gnomAD v2:
7-124499043-C-T
gnomAD v3:
7-124858989-C-T
gnomAD v4:
7-124858989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124858989C>T , CM000669.2:g.124858989C>T | GRCh38 |
| NC_000007.13:g.124499043C>T , CM000669.1:g.124499043C>T | GRCh37 |
| NC_000007.12:g.124286279C>T | NCBI36 |
| NG_029232.1:g.75995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.670G>A MANE Select | ENSP00000350249.3:p.Asp224Asn | |
| ENST00000429326.6:c.*401G>A | ENSP00000403088.1:n.*401G>A | |
| ENST00000430927.6:c.670G>A | ENSP00000397632.2:p.Asp224Asn | |
| ENST00000446993.6:c.277G>A | ENSP00000388921.2:p.Asp93Asn | |
| ENST00000653241.1:c.670G>A | ENSP00000499476.1:p.Asp224Asn | |
| ENST00000653274.1:c.670G>A | ENSP00000499382.1:p.Asp224Asn | |
| ENST00000653819.1:c.*401G>A | ENSP00000499533.1:n.*401G>A | |
| ENST00000653892.1:c.*344+57G>A | ENSP00000499506.1:n.*344+57G>A | |
| ENST00000654766.1:c.670G>A | ENSP00000499395.1:p.Asp224Asn | |
| ENST00000655761.1:c.670G>A | ENSP00000499635.1:p.Asp224Asn | |
| ENST00000657333.1:c.*401G>A | ENSP00000499425.1:n.*401G>A | |
| ENST00000657892.1:c.*539G>A | ENSP00000499524.1:n.*539G>A | |
| ENST00000661898.1:c.670G>A | ENSP00000499528.1:p.Asp224Asn | |
| ENST00000662531.1:c.*565G>A | ENSP00000499488.1:n.*565G>A | |
| ENST00000664330.1:c.*401G>A | ENSP00000499781.1:n.*401G>A | |
| ENST00000664366.1:c.670G>A | ENSP00000499290.1:p.Asp224Asn | |
| ENST00000668382.1:c.670G>A | ENSP00000499546.1:p.Asp224Asn | |
| ENST00000357628.7:c.670G>A | ENSP00000350249.3:p.Asp224Asn | |
| ENST00000393329.5:c.277G>A | ENSP00000377002.1:p.Asp93Asn | |
| ENST00000429326.5:c.*401G>A | ENSP00000403088.1:n.*401G>A | |
| ENST00000487564.1:c.160G>A | ENSP00000476290.1:p.Asp54Asn | |
| ENST00000607932.5:c.670G>A | ENSP00000476506.1:p.Asp224Asn | |
| ENST00000608057.5:c.670G>A | ENSP00000476371.1:p.Asp224Asn | |
| ENST00000609106.5:c.670G>A | ENSP00000476981.1:p.Asp224Asn | |
| ENST00000610141.1:c.62G>A | ||
| NM_001042594.1:c.277G>A | NP_001036059.1:p.Asp93Asn | |
| NM_015450.2:c.670G>A | NP_056265.2:p.Asp224Asn | |
| NR_003102.1:n.1271G>A | ||
| NR_003103.1:n.1271G>A | ||
| NR_003104.1:n.1271G>A | ||
| XM_006715917.2:c.670G>A | XP_006715980.1:p.Asp224Asn | |
| XM_011516006.1:c.277G>A | XP_011514308.1:p.Asp93Asn | |
| XM_011516007.1:c.277G>A | XP_011514309.1:p.Asp93Asn | |
| XM_006715917.4:c.670G>A | XP_006715980.1:p.Asp224Asn | |
| XM_017011942.2:c.277G>A | XP_016867431.1:p.Asp93Asn | |
| XR_001744618.1:n.1261G>A | ||
| XR_001744619.2:n.1130G>A | ||
| NM_015450.3:c.670G>A MANE Select | NP_056265.2:p.Asp224Asn | |
| NM_001042594.2:c.277G>A | NP_001036059.1:p.Asp93Asn | |
| NR_003102.2:n.1113G>A | ||
| NR_003103.2:n.1113G>A | ||
| NR_003104.2:n.1113G>A |