Linked Data
ClinVar Variation Id:
14675
dbSNP Id:
rs121913161
ExAC:
2:113888645 G / T
gnomAD v2:
2-113888645-G-T
gnomAD v3:
2-113131068-G-T
gnomAD v4:
2-113131068-G-T
PubMed:
PMID:19494218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113131068G>T , CM000664.2:g.113131068G>T | GRCh38 |
| NC_000002.11:g.113888645G>T , CM000664.1:g.113888645G>T | GRCh37 |
| NC_000002.10:g.113605116G>T | NCBI36 |
| NG_021240.1:g.18176G>T , LRG_188:g.18176G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.127G>T | ENSP00000387210.1:p.Glu43Ter | |
| ENST00000696879.1:c.127G>T | ENSP00000512947.1:p.Glu43Ter | |
| ENST00000696880.1:c.127G>T | ENSP00000512948.1:p.Glu43Ter | |
| ENST00000696881.1:c.127G>T | ENSP00000512949.1:p.Glu43Ter | |
| ENST00000696882.1:c.122G>T | ENSP00000512950.1:p.Ter41Leu | |
| ENST00000696883.1:n.174G>T | ||
| ENST00000409930.4:c.229G>T MANE Select | ENSP00000387173.3:p.Glu77Ter | |
| ENST00000259206.9:c.238G>T | ENSP00000259206.5:p.Glu80Ter | |
| ENST00000354115.6:c.175G>T | ENSP00000329072.3:p.Glu59Ter | |
| ENST00000361779.7:c.127G>T | ENSP00000354816.3:p.Glu43Ter | |
| ENST00000409052.5:c.127G>T | ENSP00000387210.1:p.Glu43Ter | |
| ENST00000409930.3:c.229G>T | ENSP00000387173.3:p.Glu77Ter | |
| NM_000577.4:c.175G>T | NP_000568.1:p.Glu59Ter | |
| NM_173841.2:c.238G>T , LRG_188t1:c.238G>T | NP_776213.1:p.Glu80Ter | |
| NM_173842.2:c.229G>T | NP_776214.1:p.Glu77Ter | |
| NM_173843.2:c.127G>T | NP_776215.1:p.Glu43Ter | |
| XM_005263661.3:c.127G>T | XP_005263718.1:p.Glu43Ter | |
| XM_006712497.2:c.127G>T | XP_006712560.1:p.Glu43Ter | |
| XM_011511121.1:c.127G>T | XP_011509423.1:p.Glu43Ter | |
| NM_001318914.1:c.127G>T | NP_001305843.1:p.Glu43Ter | |
| XM_005263661.4:c.127G>T | XP_005263718.1:p.Glu43Ter | |
| NM_000577.5:c.175G>T | NP_000568.1:p.Glu59Ter | |
| NM_001318914.2:c.127G>T | NP_001305843.1:p.Glu43Ter | |
| NM_173842.3:c.229G>T MANE Select | NP_776214.1:p.Glu77Ter | |
| NM_173843.3:c.127G>T | NP_776215.1:p.Glu43Ter | |
| NM_001379360.1:c.127G>T | NP_001366289.1:p.Glu43Ter | |
| NM_173841.3:c.238G>T | NP_776213.1:p.Glu80Ter |