Linked Data
ClinVar Variation Id:
2640754
ClinVar RCV Id:
RCV003422801
dbSNP Id:
rs1234309428
gnomAD v4:
10-99884194-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99884194G>A , CM000672.2:g.99884194G>A | GRCh38 |
| NC_000010.10:g.101643951G>A , CM000672.1:g.101643951G>A | GRCh37 |
| NC_000010.9:g.101633941G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324109.9:c.3814C>T MANE Select | ENSP00000315659.4:p.Gln1272Ter | |
| ENST00000543621.6:c.1678C>T | ENSP00000443657.2:p.Gln560Ter | |
| ENST00000636706.1:c.2710C>T | ENSP00000489875.1:p.Gln904Ter | |
| ENST00000324109.8:c.3814C>T | ENSP00000315659.4:p.Gln1272Ter | |
| ENST00000543621.5:c.1552C>T | ENSP00000443657.1:p.Gln518Ter | |
| NM_015221.2:c.3814C>T | NP_056036.1:p.Gln1272Ter | |
| XM_006717735.2:c.3685C>T | XP_006717798.1:p.Gln1229Ter | |
| XM_011539559.1:c.3814C>T | XP_011537861.1:p.Gln1272Ter | |
| XM_011539560.1:c.2710C>T | XP_011537862.1:p.Gln904Ter | |
| NM_001318326.1:c.2710C>T | NP_001305255.1:p.Gln904Ter | |
| NM_001318327.1:c.1678C>T | NP_001305256.1:p.Gln560Ter | |
| NM_015221.3:c.3814C>T | NP_056036.1:p.Gln1272Ter | |
| XM_006717735.3:c.3685C>T | XP_006717798.1:p.Gln1229Ter | |
| XM_011539559.2:c.3814C>T | XP_011537861.1:p.Gln1272Ter | |
| NM_015221.4:c.3814C>T MANE Select | NP_056036.1:p.Gln1272Ter | |
| NM_001318326.2:c.2710C>T | NP_001305255.1:p.Gln904Ter |