Linked Data
ClinVar Variation Id:
39836
dbSNP Id:
rs200800978
ExAC:
2:201950249 G / T
gnomAD v2:
2-201950249-G-T
gnomAD v3:
2-201085526-G-T
gnomAD v4:
2-201085526-G-T
PubMed:
PMID:22499348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201085526G>T , CM000664.2:g.201085526G>T | GRCh38 |
| NC_000002.11:g.201950249G>T , CM000664.1:g.201950249G>T | GRCh37 |
| NC_000002.10:g.201658494G>T | NCBI36 |
| NG_032156.1:g.18788G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450023.6:c.208G>T | ENSP00000401834.2:p.Gly70Ter | |
| ENST00000682325.1:c.208G>T | ENSP00000507925.1:p.Gly70Ter | |
| ENST00000684175.1:c.208G>T | ENSP00000508132.1:p.Gly70Ter | |
| ENST00000684420.1:c.208G>T | ENSP00000508208.1:p.Gly70Ter | |
| ENST00000237889.9:c.208G>T MANE Select | ENSP00000237889.4:p.Gly70Ter | |
| ENST00000237889.8:c.208G>T | ENSP00000237889.4:p.Gly70Ter | |
| ENST00000433898.5:c.208G>T | ENSP00000410600.1:p.Gly70Ter | |
| ENST00000454214.1:c.208G>T | ENSP00000407336.1:p.Gly70Ter | |
| NM_001257102.1:c.208G>T | NP_001244031.1:p.Gly70Ter | |
| NM_002491.2:c.208G>T | NP_002482.1:p.Gly70Ter | |
| XM_011511230.1:c.208G>T | XP_011509532.1:p.Gly70Ter | |
| XM_011511230.3:c.208G>T | XP_011509532.1:p.Gly70Ter | |
| XM_017004186.2:c.208G>T | XP_016859675.1:p.Gly70Ter | |
| NM_002491.3:c.208G>T MANE Select | NP_002482.1:p.Gly70Ter | |
| NM_001257102.2:c.208G>T | NP_001244031.1:p.Gly70Ter |