Linked Data
ClinVar Variation Id:
352757
ClinVar RCV Id:
RCV000395398
dbSNP Id:
rs553703806
gnomAD v2:
5-171762697-C-T
gnomAD v3:
5-172335693-C-T
gnomAD v4:
5-172335693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172335693C>T , CM000667.2:g.172335693C>T | GRCh38 |
| NC_000005.9:g.171762697C>T , CM000667.1:g.171762697C>T | GRCh37 |
| NC_000005.8:g.171695302C>T | NCBI36 |
| NG_027746.1:g.123831G>A | |
| NG_027746.2:g.123831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.*2676G>A MANE Select | ENSP00000309714.5:n.*2676G>A | |
| ENST00000636523.1:c.1229-10313G>A | ||
| ENST00000311601.5:c.*2676G>A | ENSP00000309714.5:n.*2676G>A | |
| ENST00000518522.5:c.201-1924G>A | ||
| ENST00000519643.5:c.1189-10313G>A | ENSP00000430890.1:n.1189-10313G>A | |
| NM_001017995.2:c.*2676G>A | NP_001017995.1:n.*2676G>A | |
| NM_001308175.1:c.1189-10313G>A | NP_001295104.1:n.1189-10313G>A | |
| XM_017009351.1:c.*2676G>A | XP_016864840.1:n.*2676G>A | |
| NM_001017995.3:c.*2676G>A MANE Select | NP_001017995.1:n.*2676G>A | |
| NM_001308175.2:c.1189-10313G>A | NP_001295104.1:n.1189-10313G>A |