Linked Data
ClinVar Variation Id:
42744
ClinVar RCV Id:
RCV000158271
RCV000208264
RCV000475268
RCV000515345
RCV000621330
RCV000852435
RCV001170942
RCV001807752
dbSNP Id:
rs397516042
ExAC:
11:47353626 G / A
gnomAD v2:
11-47353626-G-A
gnomAD v3:
11-47332075-G-A
gnomAD v4:
11-47332075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332075G>A , CM000673.2:g.47332075G>A | GRCh38 |
| NC_000011.9:g.47353626G>A , CM000673.1:g.47353626G>A | GRCh37 |
| NC_000011.8:g.47310202G>A | NCBI36 |
| NG_007667.1:g.25628C>T , LRG_386:g.25628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3811C>T MANE Select | ENSP00000442795.1:p.Arg1271Ter | |
| ENST00000256993.8:c.3811C>T | ENSP00000256993.5:p.Arg1271Ter | |
| ENST00000399249.6:c.3811C>T | ENSP00000382193.2:p.Arg1271Ter | |
| ENST00000545968.5:c.3811C>T | ENSP00000442795.1:p.Arg1271Ter | |
| NM_000256.3:c.3811C>T , LRG_386t1:c.3811C>T MANE Select | NP_000247.2:p.Arg1271Ter | |
| XM_011520117.1:c.3793C>T | XP_011518419.1:p.Arg1265Ter | |
| XM_011520118.1:c.3730C>T | XP_011518420.1:p.Arg1244Ter |