Linked Data
ClinVar Variation Id:
295579
ClinVar RCV Id:
RCV000272202
dbSNP Id:
rs747429986
gnomAD v4:
1-219915052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219915052G>A , CM000663.2:g.219915052G>A | GRCh38 |
| NC_000001.10:g.220088394G>A , CM000663.1:g.220088394G>A | GRCh37 |
| NC_000001.9:g.218155017G>A | NCBI36 |
| NG_032153.1:g.18600C>T | |
| NG_032153.2:g.18600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.1666C>T | ENSP00000512752.1:n.1666C>T | |
| ENST00000366926.4:c.*397C>T MANE Select | ENSP00000355893.4:n.*397C>T | |
| ENST00000356609.2:c.*1221C>T | ENSP00000349018.2:n.*1221C>T | |
| ENST00000484079.1:n.1673C>T | ||
| ENST00000484239.5:n.398+3203C>T | ||
| NM_018713.2:c.*397C>T | NP_061183.2:n.*397C>T | |
| NR_046437.1:n.2104C>T | ||
| XM_006711437.2:c.*397C>T | XP_006711500.2:n.*397C>T | |
| XM_011509727.1:c.*397C>T | XP_011508029.1:n.*397C>T | |
| XM_006711437.4:c.*397C>T | XP_006711500.2:n.*397C>T | |
| XM_017001684.2:c.*397C>T | XP_016857173.1:n.*397C>T | |
| NM_001376929.1:c.*397C>T | NP_001363858.1:n.*397C>T | |
| NM_018713.3:c.*397C>T MANE Select | NP_061183.2:n.*397C>T | |
| NR_046437.2:n.2010C>T | ||
| NR_165031.1:n.1747C>T |