Linked Data
dbSNP Id:
rs1445693357
gnomAD v2:
5-90059158-G-A
gnomAD v3:
5-90763341-G-A
gnomAD v4:
5-90763341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763341G>A , CM000667.2:g.90763341G>A | GRCh38 |
| NC_000005.9:g.90059158G>A , CM000667.1:g.90059158G>A | GRCh37 |
| NC_000005.8:g.90094914G>A | NCBI36 |
| NG_007083.1:g.209542G>A | |
| NG_007083.2:g.238998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12157G>A MANE Select | ENSP00000384582.2:p.Asp4053Asn | |
| ENST00000425867.3:c.1111G>A | ENSP00000392618.3:p.Asp371Asn | |
| ENST00000639431.1:c.265+87132G>A | ENSP00000491057.1:n.265+87132G>A | |
| ENST00000640464.1:n.2576G>A | ||
| ENST00000640729.1:n.734G>A | ||
| ENST00000405460.6:c.12157G>A | ENSP00000384582.2:p.Asp4053Asn | |
| NM_032119.3:c.12157G>A | NP_115495.3:p.Asp4053Asn | |
| NR_003149.1:n.12170G>A | ||
| XM_011543675.1:c.12154G>A | XP_011541977.1:p.Asp4052Asn | |
| XM_011543676.1:c.12076G>A | XP_011541978.1:p.Asp4026Asn | |
| XM_011543677.1:c.9460G>A | XP_011541979.1:p.Asp3154Asn | |
| XM_011543678.1:c.12157G>A | XP_011541980.1:p.Asp4053Asn | |
| NM_032119.4:c.12157G>A MANE Select | NP_115495.3:p.Asp4053Asn | |
| XM_017009963.2:c.12178G>A | XP_016865452.1:p.Asp4060Asn | |
| XM_017009964.2:c.12175G>A | XP_016865453.1:p.Asp4059Asn | |
| XM_017009965.1:c.12175G>A | XP_016865454.1:p.Asp4059Asn | |
| XM_017009966.2:c.12097G>A | XP_016865455.1:p.Asp4033Asn | |
| XM_017009967.1:c.12082G>A | XP_016865456.1:p.Asp4028Asn | |
| XM_017009968.2:c.12178G>A | XP_016865457.1:p.Asp4060Asn | |
| XM_017009969.2:c.12178G>A | XP_016865458.1:p.Asp4060Asn | |
| XM_017009970.2:c.12178G>A | XP_016865459.1:p.Asp4060Asn | |
| XM_017009971.2:c.12178G>A | XP_016865460.1:p.Asp4060Asn | |
| XM_017009972.1:c.5296G>A | XP_016865461.1:p.Asp1766Asn | |
| XM_017009973.1:c.5275G>A | XP_016865462.1:p.Asp1759Asn | |
| NR_003149.2:n.12173G>A |