Linked Data
ClinVar Variation Id:
295583
dbSNP Id:
rs544895572
ExAC:
1:220088977 G / A
gnomAD v2:
1-220088977-G-A
gnomAD v3:
1-219915635-G-A
gnomAD v4:
1-219915635-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219915635G>A , CM000663.2:g.219915635G>A | GRCh38 |
| NC_000001.10:g.220088977G>A , CM000663.1:g.220088977G>A | GRCh37 |
| NC_000001.9:g.218155600G>A | NCBI36 |
| NG_032153.1:g.18017C>T | |
| NG_032153.2:g.18017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.1083C>T | ENSP00000512752.1:p.His361= | |
| ENST00000366926.4:c.1272C>T MANE Select | ENSP00000355893.4:p.His424= | |
| ENST00000356609.2:c.*638C>T | ENSP00000349018.2:n.*638C>T | |
| ENST00000366926.3:c.1272C>T | ENSP00000355893.3:p.His424= | |
| ENST00000484079.1:n.1090C>T | ||
| ENST00000484239.5:n.398+2620C>T | ||
| NM_018713.2:c.1272C>T | NP_061183.2:p.His424= | |
| NR_046437.1:n.1521C>T | ||
| XM_006711437.2:c.1083C>T | XP_006711500.2:p.His361= | |
| XM_011509727.1:c.597C>T | XP_011508029.1:p.His199= | |
| XM_006711437.4:c.1083C>T | XP_006711500.2:p.His361= | |
| XM_017001684.2:c.795C>T | XP_016857173.1:p.His265= | |
| NM_001376929.1:c.1083C>T | NP_001363858.1:p.His361= | |
| NM_018713.3:c.1272C>T MANE Select | NP_061183.2:p.His424= | |
| NR_046437.2:n.1427C>T | ||
| NR_165031.1:n.1164C>T |