Linked Data
ClinVar Variation Id:
208814
ClinVar RCV Id:
RCV000190842
dbSNP Id:
rs797045120
PubMed:
PMID:25859010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43158949G>C , CM000670.2:g.43158949G>C | GRCh38 |
| NC_000008.10:g.43014092G>C , CM000670.1:g.43014092G>C | GRCh37 |
| NC_000008.9:g.43133249G>C | NCBI36 |
| NG_009552.1:g.23501G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.398G>C MANE Select | ENSP00000368965.4:p.Gly133Ala | |
| ENST00000379644.8:c.398G>C | ENSP00000368965.4:p.Gly133Ala | |
| ENST00000517319.1:c.261G>C | ENSP00000430032.1:p.Trp87Cys | |
| ENST00000520704.1:c.248G>C | ENSP00000429109.1:p.Gly83Ala | |
| NM_152419.2:c.398G>C | NP_689632.2:p.Gly133Ala | |
| XM_005273409.1:c.398G>C | XP_005273466.1:p.Gly133Ala | |
| XM_005273410.1:c.398G>C | XP_005273467.1:p.Gly133Ala | |
| XM_005273411.1:c.398G>C | XP_005273468.1:p.Gly133Ala | |
| XM_005273412.2:c.398G>C | XP_005273469.1:p.Gly133Ala | |
| NM_001363227.1:c.398G>C | NP_001350156.1:p.Gly133Ala | |
| NM_001363228.1:c.398G>C | NP_001350157.1:p.Gly133Ala | |
| NM_001363229.1:c.-436G>C | NP_001350158.1:n.-436G>C | |
| XM_005273412.4:c.398G>C | XP_005273469.1:p.Gly133Ala | |
| NM_152419.3:c.398G>C MANE Select | NP_689632.2:p.Gly133Ala | |
| NM_001363227.2:c.398G>C | NP_001350156.1:p.Gly133Ala | |
| NM_001363228.2:c.398G>C | NP_001350157.1:p.Gly133Ala | |
| NM_001363229.2:c.-436G>C | NP_001350158.1:n.-436G>C |