Linked Data
ClinVar Variation Id:
12974
ClinVar RCV Id:
RCV000013841
RCV000013842
RCV000119654
RCV001204982
RCV001787751
RCV001787752
RCV001787753
RCV001787747
RCV001787749
RCV001787748
RCV001787750
dbSNP Id:
rs118192163
gnomAD v2:
19-38985205-G-A
gnomAD v4:
19-38494565-G-A
ERepo:
CA024593/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38494565G>A , CM000681.2:g.38494565G>A | GRCh38 |
| NC_000019.9:g.38985205G>A , CM000681.1:g.38985205G>A | GRCh37 |
| NC_000019.8:g.43677045G>A | NCBI36 |
| NG_008866.1:g.65866G>A , LRG_766:g.65866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6488G>A | ENSP00000471601.2:p.Arg2163His | |
| ENST00000359596.8:c.6488G>A MANE Select | ENSP00000352608.2:p.Arg2163His | |
| ENST00000355481.8:c.6488G>A | ENSP00000347667.3:p.Arg2163His | |
| ENST00000359596.7:c.6488G>A | ENSP00000352608.2:p.Arg2163His | |
| ENST00000360985.7:c.6485G>A | ENSP00000354254.4:p.Arg2162His | |
| NM_000540.2:c.6488G>A , LRG_766t1:c.6488G>A | NP_000531.2:p.Arg2163His | |
| NM_001042723.1:c.6488G>A | NP_001036188.1:p.Arg2163His | |
| XM_006723317.1:c.6488G>A | XP_006723380.1:p.Arg2163His | |
| XM_006723319.1:c.6488G>A | XP_006723382.1:p.Arg2163His | |
| XM_011527204.1:c.6485G>A | XP_011525506.1:p.Arg2162His | |
| XM_011527205.1:c.6488G>A | XP_011525507.1:p.Arg2163His | |
| XM_006723317.2:c.6488G>A | XP_006723380.1:p.Arg2163His | |
| XM_006723319.2:c.6488G>A | XP_006723382.1:p.Arg2163His | |
| XM_011527205.2:c.6488G>A | XP_011525507.1:p.Arg2163His | |
| XR_001753735.1:n.6571G>A | ||
| NM_000540.3:c.6488G>A MANE Select | NP_000531.2:p.Arg2163His | |
| NM_001042723.2:c.6488G>A | NP_001036188.1:p.Arg2163His |