Linked Data
ClinVar Variation Id:
759
dbSNP Id:
rs267607137
ExAC:
8:141370230 G / A
gnomAD v2:
8-141370230-G-A
gnomAD v3:
8-140360131-G-A
gnomAD v4:
8-140360131-G-A
PubMed:
PMID:20004764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.140360131G>A , CM000670.2:g.140360131G>A | GRCh38 |
| NC_000008.10:g.141370230G>A , CM000670.1:g.141370230G>A | GRCh37 |
| NC_000008.9:g.141439412G>A | NCBI36 |
| NG_016478.2:g.103449C>T | |
| NG_016478.3:g.103449C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438773.4:c.1414C>T MANE Select | ENSP00000405060.3:p.Arg472Ter | |
| ENST00000648948.2:c.1414C>T | ENSP00000498020.1:p.Arg472Ter | |
| ENST00000389328.8:c.1708C>T | ENSP00000373979.4:p.Arg570Ter | |
| ENST00000438773.2:c.1414C>T | ENSP00000405060.2:p.Arg472Ter | |
| ENST00000520857.5:c.944C>T | ||
| NM_001160372.2:c.1414C>T | NP_001153844.1:p.Arg472Ter | |
| NM_031466.6:c.1708C>T | NP_113654.4:p.Arg570Ter | |
| XM_005251077.3:c.1414C>T | XP_005251134.1:p.Arg472Ter | |
| XM_011517326.1:c.1681C>T | XP_011515628.1:p.Arg561Ter | |
| XM_011517327.1:c.1708C>T | XP_011515629.1:p.Arg570Ter | |
| XM_011517328.1:c.1708C>T | XP_011515630.1:p.Arg570Ter | |
| XM_011517329.1:c.802C>T | XP_011515631.1:p.Arg268Ter | |
| XR_928355.1:n.1723C>T | ||
| NM_001160372.3:c.1414C>T | NP_001153844.1:p.Arg472Ter | |
| NM_001321646.1:c.1387C>T | NP_001308575.1:p.Arg463Ter | |
| NM_031466.7:c.1708C>T | NP_113654.4:p.Arg570Ter | |
| XM_011517326.2:c.1681C>T | XP_011515628.1:p.Arg561Ter | |
| XM_011517328.2:c.1708C>T | XP_011515630.1:p.Arg570Ter | |
| XM_017013893.1:c.1708C>T | XP_016869382.1:p.Arg570Ter | |
| XM_017013894.2:c.34C>T | XP_016869383.1:p.Arg12Ter | |
| XR_928355.2:n.1723C>T | ||
| NM_001160372.4:c.1414C>T MANE Select | NP_001153844.1:p.Arg472Ter | |
| NM_001321646.2:c.1387C>T | NP_001308575.1:p.Arg463Ter | |
| NM_001374682.1:c.1435C>T | NP_001361611.1:p.Arg479Ter | |
| NM_001374683.1:c.1414C>T | NP_001361612.1:p.Arg472Ter | |
| NM_001374684.1:c.1351+10833C>T | NP_001361613.1:n.1351+10833C>T | |
| NM_031466.8:c.1414C>T | NP_113654.5:p.Arg472Ter | |
| NR_164662.1:n.1503C>T |