Linked Data
ClinVar Variation Id:
17717
dbSNP Id:
rs1058396
ExAC:
18:43319519 G / A
gnomAD v2:
18-43319519-G-A
gnomAD v3:
18-45739554-G-A
gnomAD v4:
18-45739554-G-A
PubMed:
PMID:9215669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45739554G>A , CM000680.2:g.45739554G>A | GRCh38 |
| NC_000018.9:g.43319519G>A , CM000680.1:g.43319519G>A | GRCh37 |
| NC_000018.8:g.41573517G>A | NCBI36 |
| NG_011775.3:g.20428G>A | |
| NG_011775.4:g.57530G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321925.9:c.838G>A MANE Select | ENSP00000318546.4:p.Asp280Asn | |
| ENST00000502059.7:c.*191G>A | ENSP00000442180.2:n.*191G>A | |
| ENST00000586951.6:c.838G>A | ENSP00000465702.2:p.Asp280Asn | |
| ENST00000588179.6:c.*168G>A | ENSP00000467898.2:n.*168G>A | |
| ENST00000589322.7:c.442G>A | ENSP00000466273.3:p.Asp148Asn | |
| ENST00000321925.8:c.838G>A | ENSP00000318546.4:p.Asp280Asn | |
| ENST00000402943.6:c.523G>A | ENSP00000385320.2:p.Asp175Asn | |
| ENST00000415427.7:c.1006G>A | ENSP00000412309.2:p.Asp336Asn | |
| ENST00000436407.7:c.1006G>A | ENSP00000390637.2:p.Asp336Asn | |
| ENST00000502059.6:c.514G>A | ENSP00000442180.1:p.Asp172Asn | |
| ENST00000535474.5:c.442G>A | ENSP00000441998.1:p.Asp148Asn | |
| ENST00000586142.5:c.838G>A | ENSP00000470476.1:p.Asp280Asn | |
| ENST00000586854.1:n.271G>A | ||
| ENST00000588179.5:c.*168G>A | ENSP00000467898.2:n.*168G>A | |
| ENST00000589322.6:c.442G>A | ENSP00000466273.2:p.Asp148Asn | |
| ENST00000589700.5:c.690G>A | ENSP00000465044.1:p.Arg230= | |
| ENST00000590377.1:c.386+2906G>A | ||
| ENST00000591541.2:n.53G>A | ||
| ENST00000619403.4:c.690G>A | ENSP00000479595.1:p.Arg230= | |
| NM_001128588.3:c.1006G>A | NP_001122060.3:p.Asp336Asn | |
| NM_001146036.2:c.838G>A | NP_001139508.2:p.Asp280Asn | |
| NM_001146037.1:c.1006G>A | NP_001139509.1:p.Asp336Asn | |
| NM_001308278.1:c.523G>A | NP_001295207.1:p.Asp175Asn | |
| NM_001308279.1:c.442G>A | NP_001295208.1:p.Asp148Asn | |
| NM_015865.6:c.838G>A | NP_056949.4:p.Asp280Asn | |
| XM_005258329.1:c.1006G>A | XP_005258386.1:p.Asp336Asn | |
| XM_005258333.1:c.442G>A | XP_005258390.1:p.Asp148Asn | |
| XM_006722526.2:c.943G>A | XP_006722589.1:p.Asp315Asn | |
| XM_011526141.1:c.943G>A | XP_011524443.1:p.Asp315Asn | |
| XM_011526142.1:c.943G>A | XP_011524444.1:p.Asp315Asn | |
| XM_011526143.1:c.1006G>A | XP_011524445.1:p.Asp336Asn | |
| XM_011526144.1:c.1006G>A | XP_011524446.1:p.Asp336Asn | |
| XR_935425.1:n.680-1960C>T | ||
| NM_015865.7:c.838G>A MANE Select | NP_056949.4:p.Asp280Asn | |
| XM_006722526.3:c.943G>A | XP_006722589.1:p.Asp315Asn | |
| XM_024451238.1:c.838G>A | XP_024307006.1:p.Asp280Asn | |
| XR_001753266.1:n.1204G>A | ||
| XR_001753561.1:n.529-1960C>T | ||
| XR_935423.2:n.698-1960C>T | ||
| NM_001128588.4:c.1006G>A | NP_001122060.3:p.Asp336Asn | |
| NM_001146036.3:c.838G>A | NP_001139508.2:p.Asp280Asn | |
| NM_001308278.2:c.523G>A | NP_001295207.1:p.Asp175Asn | |
| NM_001308279.2:c.442G>A | NP_001295208.1:p.Asp148Asn |