Linked Data
ClinVar Variation Id:
98493
ClinVar RCV Id:
RCV000084784
dbSNP Id:
rs367543191
gnomAD v3:
17-50149440-C-G
gnomAD v4:
17-50149440-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50149440C>G , CM000679.2:g.50149440C>G | GRCh38 |
| NC_000017.10:g.48226805C>G , CM000679.1:g.48226805C>G | GRCh37 |
| NC_000017.9:g.45581804C>G | NCBI36 |
| NG_034197.1:g.6078G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612501.2:c.1074G>C MANE Select | ENSP00000478767.1:p.Ala358= | |
| ENST00000612501.1:c.1074G>C | ENSP00000478767.1:p.Ala358= | |
| NM_032595.4:c.1074G>C | NP_115984.3:p.Ala358= | |
| XM_011525380.1:c.1074G>C | XP_011523682.1:p.Ala358= | |
| XM_011525381.1:c.1074G>C | XP_011523683.1:p.Ala358= | |
| XR_934576.1:n.1583G>C | ||
| XM_011525381.2:c.1074G>C | XP_011523683.1:p.Ala358= | |
| XR_934576.2:n.1587G>C | ||
| NM_032595.5:c.1074G>C MANE Select | NP_115984.3:p.Ala358= |