Linked Data
ClinVar Variation Id:
2159032
ClinVar RCV Id:
RCV003085843
dbSNP Id:
rs2062428814
gnomAD v3:
X-48688795-C-A
gnomAD v4:
X-48688795-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688795C>A , CM000685.2:g.48688795C>A | GRCh38 |
| NC_000023.10:g.48547184C>A , CM000685.1:g.48547184C>A | GRCh37 |
| NC_000023.9:g.48432128C>A | NCBI36 |
| NG_007877.1:g.9999C>A , LRG_125:g.9999C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.311C>A | ||
| ENST00000698625.1:c.1067C>A | ENSP00000513844.1:p.Pro356His | |
| ENST00000698626.1:c.1067C>A | ENSP00000513845.1:p.Pro356His | |
| ENST00000698635.1:c.1067C>A | ENSP00000513850.1:p.Pro356His | |
| ENST00000376701.5:c.1067C>A MANE Select | ENSP00000365891.4:p.Pro356His | |
| ENST00000376701.4:c.1067C>A | ENSP00000365891.4:p.Pro356His | |
| ENST00000474174.1:n.311C>A | ||
| NM_000377.2:c.1067C>A , LRG_125t1:c.1067C>A | NP_000368.1:p.Pro356His | |
| XM_011543977.1:c.932-21C>A | XP_011542279.1:n.932-21C>A | |
| XM_011543977.2:c.932-21C>A | XP_011542279.1:n.932-21C>A | |
| XM_017029786.1:c.1067C>A | XP_016885275.1:p.Pro356His | |
| NM_000377.3:c.1067C>A MANE Select | NP_000368.1:p.Pro356His |