Linked Data
ClinVar Variation Id:
1351863
ClinVar RCV Id:
RCV002047164
dbSNP Id:
rs2147266477
gnomAD v4:
X-48688812-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688812C>A , CM000685.2:g.48688812C>A | GRCh38 |
| NC_000023.10:g.48547201C>A , CM000685.1:g.48547201C>A | GRCh37 |
| NC_000023.9:g.48432145C>A | NCBI36 |
| NG_007877.1:g.10016C>A , LRG_125:g.10016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.328C>A | ||
| ENST00000698625.1:c.1084C>A | ENSP00000513844.1:p.Pro362Thr | |
| ENST00000698626.1:c.1084C>A | ENSP00000513845.1:p.Pro362Thr | |
| ENST00000698635.1:c.1084C>A | ENSP00000513850.1:p.Pro362Thr | |
| ENST00000376701.5:c.1084C>A MANE Select | ENSP00000365891.4:p.Pro362Thr | |
| ENST00000376701.4:c.1084C>A | ENSP00000365891.4:p.Pro362Thr | |
| ENST00000474174.1:n.328C>A | ||
| NM_000377.2:c.1084C>A , LRG_125t1:c.1084C>A | NP_000368.1:p.Pro362Thr | |
| XM_011543977.1:c.932-4C>A | XP_011542279.1:n.932-4C>A | |
| XM_011543977.2:c.932-4C>A | XP_011542279.1:n.932-4C>A | |
| XM_017029786.1:c.1084C>A | XP_016885275.1:p.Pro362Thr | |
| NM_000377.3:c.1084C>A MANE Select | NP_000368.1:p.Pro362Thr |