Linked Data
ClinVar Variation Id:
339165
ClinVar RCV Id:
RCV000374924
dbSNP Id:
rs527535068
gnomAD v3:
20-6074946-G-A
gnomAD v4:
20-6074946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6074946G>A , CM000682.2:g.6074946G>A | GRCh38 |
| NC_000020.10:g.6055593G>A , CM000682.1:g.6055593G>A | GRCh37 |
| NC_000020.9:g.6003593G>A | NCBI36 |
| NG_016213.1:g.53599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217289.9:c.*2227C>T MANE Select | ENSP00000217289.4:n.*2227C>T | |
| ENST00000217289.8:c.*2227C>T | ENSP00000217289.4:n.*2227C>T | |
| ENST00000478194.1:n.3221C>T | ||
| NM_017671.4:c.*2227C>T | NP_060141.3:n.*2227C>T | |
| XM_024451935.1:c.*2227C>T | XP_024307703.1:n.*2227C>T | |
| NM_017671.5:c.*2227C>T MANE Select | NP_060141.3:n.*2227C>T |