Linked Data
ClinVar Variation Id:
403226
dbSNP Id:
rs12031285
ExAC:
1:211836789 T / C
gnomAD v2:
1-211836789-T-C
gnomAD v3:
1-211663447-T-C
gnomAD v4:
1-211663447-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211663447T>C , CM000663.2:g.211663447T>C | GRCh38 |
| NC_000001.10:g.211836789T>C , CM000663.1:g.211836789T>C | GRCh37 |
| NC_000001.9:g.209903412T>C | NCBI36 |
| NG_029112.1:g.17184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366999.9:c.1317A>G MANE Select | ENSP00000355966.4:p.Arg439= | |
| ENST00000366999.8:c.1317A>G | ENSP00000355966.4:p.Arg439= | |
| ENST00000462283.5:n.757A>G | ||
| ENST00000540251.5:c.1111+3659A>G | ENSP00000440237.2:n.1111+3659A>G | |
| NM_001204182.1:c.1111+3659A>G | NP_001191111.1:n.1111+3659A>G | |
| NM_002497.3:c.1317A>G | NP_002488.1:p.Arg439= | |
| XM_005273147.1:c.1293A>G | XP_005273204.1:p.Arg431= | |
| XM_005273147.2:c.1293A>G | XP_005273204.1:p.Arg431= | |
| NM_002497.4:c.1317A>G MANE Select | NP_002488.1:p.Arg439= | |
| NM_001204182.2:c.1111+3659A>G | NP_001191111.1:n.1111+3659A>G |