Linked Data
ClinVar Variation Id:
188229
dbSNP Id:
rs148720124
ExAC:
5:13794057 C / A
gnomAD v2:
5-13794057-C-A
gnomAD v3:
5-13793948-C-A
gnomAD v4:
5-13793948-C-A
PubMed:
PMID:18492703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13793948C>A , CM000667.2:g.13793948C>A | GRCh38 |
| NC_000005.9:g.13794057C>A , CM000667.1:g.13794057C>A | GRCh37 |
| NC_000005.8:g.13847057C>A | NCBI36 |
| NG_013081.1:g.155533G>T | |
| NG_013081.2:g.155533G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7998G>T MANE Select | ENSP00000265104.4:p.Glu2666Asp | |
| ENST00000681290.1:c.7953G>T | ENSP00000505288.1:p.Glu2651Asp | |
| ENST00000265104.4:c.7998G>T | ENSP00000265104.4:p.Glu2666Asp | |
| NM_001369.2:c.7998G>T | NP_001360.1:p.Glu2666Asp | |
| XM_005248262.2:c.7953G>T | XP_005248319.1:p.Glu2651Asp | |
| XM_011513990.1:c.7998G>T | XP_011512292.1:p.Glu2666Asp | |
| XR_925598.1:n.8205G>T | ||
| XM_005248262.3:c.8106G>T | XP_005248319.2:p.Glu2702Asp | |
| XM_017009177.1:c.8106G>T | XP_016864666.1:p.Glu2702Asp | |
| XM_017009178.1:c.7011G>T | XP_016864667.1:p.Glu2337Asp | |
| XM_017009179.2:c.7011G>T | XP_016864668.1:p.Glu2337Asp | |
| XM_017009180.1:c.8106G>T | XP_016864669.1:p.Glu2702Asp | |
| XM_017009181.1:c.8106G>T | XP_016864670.1:p.Glu2702Asp | |
| XM_017009182.1:c.8106G>T | XP_016864671.1:p.Glu2702Asp | |
| XM_017009183.1:c.8106G>T | XP_016864672.1:p.Glu2702Asp | |
| XM_017009184.1:c.8106G>T | XP_016864673.1:p.Glu2702Asp | |
| XM_017009185.1:c.3195G>T | XP_016864674.1:p.Glu1065Asp | |
| XM_017009186.1:c.2748G>T | XP_016864675.1:p.Glu916Asp | |
| XM_017009188.1:c.2085G>T | XP_016864677.1:p.Glu695Asp | |
| XM_024454388.1:c.7011G>T | XP_024310156.1:p.Glu2337Asp | |
| XM_024454389.1:c.6600G>T | XP_024310157.1:p.Glu2200Asp | |
| XR_001742034.1:n.8123G>T | ||
| XR_001742035.1:n.8123G>T | ||
| NM_001369.3:c.7998G>T MANE Select | NP_001360.1:p.Glu2666Asp |