Linked Data
ClinVar Variation Id:
295578
ClinVar RCV Id:
RCV000364944
dbSNP Id:
rs2275707
gnomAD v2:
1-220088047-C-A
gnomAD v3:
1-219914705-C-A
gnomAD v4:
1-219914705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219914705C>A , CM000663.2:g.219914705C>A | GRCh38 |
| NC_000001.10:g.220088047C>A , CM000663.1:g.220088047C>A | GRCh37 |
| NC_000001.9:g.218154670C>A | NCBI36 |
| NG_032153.1:g.18947G>T | |
| NG_032153.2:g.18947G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.2013G>T | ENSP00000512752.1:n.2013G>T | |
| ENST00000366926.4:c.*744G>T MANE Select | ENSP00000355893.4:n.*744G>T | |
| ENST00000356609.2:c.*1568G>T | ENSP00000349018.2:n.*1568G>T | |
| ENST00000484079.1:n.2020G>T | ||
| ENST00000484239.5:n.398+3550G>T | ||
| NM_018713.2:c.*744G>T | NP_061183.2:n.*744G>T | |
| NR_046437.1:n.2451G>T | ||
| XM_006711437.2:c.*744G>T | XP_006711500.2:n.*744G>T | |
| XM_011509727.1:c.*744G>T | XP_011508029.1:n.*744G>T | |
| XM_006711437.4:c.*744G>T | XP_006711500.2:n.*744G>T | |
| XM_017001684.2:c.*744G>T | XP_016857173.1:n.*744G>T | |
| NM_001376929.1:c.*744G>T | NP_001363858.1:n.*744G>T | |
| NM_018713.3:c.*744G>T MANE Select | NP_061183.2:n.*744G>T | |
| NR_046437.2:n.2357G>T | ||
| NR_165031.1:n.2094G>T |