Linked Data
ClinVar Variation Id:
30143
ClinVar RCV Id:
RCV000023054
RCV000035516
RCV000148675
RCV000474002
RCV000619983
RCV000766358
RCV001170201
RCV002490405
dbSNP Id:
rs371401403
ExAC:
11:47357547 G / T
gnomAD v2:
11-47357547-G-T
gnomAD v3:
11-47335996-G-T
gnomAD v4:
11-47335996-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335996G>T , CM000673.2:g.47335996G>T | GRCh38 |
| NC_000011.9:g.47357547G>T , CM000673.1:g.47357547G>T | GRCh37 |
| NC_000011.8:g.47314123G>T | NCBI36 |
| NG_007667.1:g.21707C>A , LRG_386:g.21707C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2618C>A MANE Select | ENSP00000442795.1:p.Pro873His | |
| ENST00000256993.8:c.2618C>A | ENSP00000256993.5:p.Pro873His | |
| ENST00000399249.6:c.2618C>A | ENSP00000382193.2:p.Pro873His | |
| ENST00000544791.1:c.*123C>A | ENSP00000444259.1:n.*123C>A | |
| ENST00000545968.5:c.2618C>A | ENSP00000442795.1:p.Pro873His | |
| NM_000256.3:c.2618C>A , LRG_386t1:c.2618C>A MANE Select | NP_000247.2:p.Pro873His | |
| XM_011520117.1:c.2600C>A | XP_011518419.1:p.Pro867His | |
| XM_011520118.1:c.2537C>A | XP_011518420.1:p.Pro846His |