Linked Data
ClinVar Variation Id:
328490
ClinVar RCV Id:
RCV000390166
dbSNP Id:
rs201718854
gnomAD v2:
19-17937253-G-A
gnomAD v3:
19-17826444-G-A
gnomAD v4:
19-17826444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17826444G>A , CM000681.2:g.17826444G>A | GRCh38 |
| NC_000019.9:g.17937253G>A , CM000681.1:g.17937253G>A | GRCh37 |
| NC_000019.8:g.17798253G>A | NCBI36 |
| NG_007273.1:g.26548C>T , LRG_77:g.26548C>T | |
| NG_012092.1:g.68C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*2231C>T | ENSP00000513006.1:n.*2231C>T | |
| ENST00000696967.1:n.2851C>T | ||
| ENST00000696968.1:n.907C>T | ||
| ENST00000696969.1:n.2631C>T | ||
| ENST00000458235.7:c.*299C>T MANE Select | ENSP00000391676.1:n.*299C>T | |
| ENST00000458235.5:c.*299C>T | ENSP00000391676.1:n.*299C>T | |
| ENST00000527031.5:n.2279-1134C>T | ||
| ENST00000527670.5:c.*299C>T | ENSP00000432511.1:n.*299C>T | |
| NM_000215.3:c.*299C>T , LRG_77t1:c.*299C>T | NP_000206.2:n.*299C>T | |
| XM_005259896.2:c.*299C>T | XP_005259953.1:n.*299C>T | |
| XM_006722745.2:c.*299C>T | XP_006722808.1:n.*299C>T | |
| XM_005259896.3:c.*299C>T | XP_005259953.1:n.*299C>T | |
| NM_000215.4:c.*299C>T MANE Select | NP_000206.2:n.*299C>T |