Linked Data
ClinVar Variation Id:
993914
dbSNP Id:
rs757316188
ExAC:
4:5630440 C / T
gnomAD v2:
4-5630440-C-T
gnomAD v3:
4-5628713-C-T
gnomAD v4:
4-5628713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628713C>T , CM000666.2:g.5628713C>T | GRCh38 |
| NC_000004.11:g.5630440C>T , CM000666.1:g.5630440C>T | GRCh37 |
| NC_000004.10:g.5681341C>T | NCBI36 |
| NG_015821.1:g.85836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1732G>A MANE Select | ENSP00000342144.5:p.Asp578Asn | |
| ENST00000310917.6:c.1492G>A | ENSP00000311683.2:p.Asp498Asn | |
| ENST00000344408.9:c.1732G>A | ENSP00000342144.5:p.Asp578Asn | |
| ENST00000475313.5:c.1492G>A | ENSP00000431981.1:p.Asp498Asn | |
| ENST00000509670.1:c.*125G>A | ENSP00000423876.1:n.*125G>A | |
| NM_001166136.1:c.1492G>A | NP_001159608.1:p.Asp498Asn | |
| NM_147127.4:c.1732G>A | NP_667338.3:p.Asp578Asn | |
| XM_011513392.1:c.1741G>A | XP_011511694.1:p.Asp581Asn | |
| XM_011513393.1:c.1741G>A | XP_011511695.1:p.Asp581Asn | |
| XM_011513394.1:c.1501G>A | XP_011511696.1:p.Asp501Asn | |
| XM_017007736.1:c.1492G>A | XP_016863225.1:p.Asp498Asn | |
| XM_017007737.1:c.1492G>A | XP_016863226.1:p.Asp498Asn | |
| XM_017007738.1:c.1732G>A | XP_016863227.1:p.Asp578Asn | |
| XM_017007739.1:c.52G>A | XP_016863228.1:p.Asp18Asn | |
| XM_024453893.1:c.52G>A | XP_024309661.1:p.Asp18Asn | |
| XR_001741141.1:n.1797G>A | ||
| NM_147127.5:c.1732G>A MANE Select | NP_667338.3:p.Asp578Asn | |
| NM_001166136.2:c.1492G>A | NP_001159608.1:p.Asp498Asn |