Linked Data
ClinVar Variation Id:
181026
ClinVar RCV Id:
RCV000158265
RCV000253530
RCV000628915
RCV000724227
RCV000988534
RCV001108137
RCV001190185
dbSNP Id:
rs370338674
ExAC:
11:47353650 G / A
gnomAD v2:
11-47353650-G-A
gnomAD v3:
11-47332099-G-A
gnomAD v4:
11-47332099-G-A
PubMed:
PMID:22958901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332099G>A , CM000673.2:g.47332099G>A | GRCh38 |
| NC_000011.9:g.47353650G>A , CM000673.1:g.47353650G>A | GRCh37 |
| NC_000011.8:g.47310226G>A | NCBI36 |
| NG_007667.1:g.25604C>T , LRG_386:g.25604C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3787C>T MANE Select | ENSP00000442795.1:p.Arg1263Trp | |
| ENST00000256993.8:c.3787C>T | ENSP00000256993.5:p.Arg1263Trp | |
| ENST00000399249.6:c.3787C>T | ENSP00000382193.2:p.Arg1263Trp | |
| ENST00000545968.5:c.3787C>T | ENSP00000442795.1:p.Arg1263Trp | |
| NM_000256.3:c.3787C>T , LRG_386t1:c.3787C>T MANE Select | NP_000247.2:p.Arg1263Trp | |
| XM_011520117.1:c.3769C>T | XP_011518419.1:p.Arg1257Trp | |
| XM_011520118.1:c.3706C>T | XP_011518420.1:p.Arg1236Trp |