Linked Data
ClinVar Variation Id:
894846
ClinVar RCV Id:
RCV001136608
dbSNP Id:
rs1019659963
gnomAD v2:
2-85773476-G-A
gnomAD v3:
2-85546353-G-A
gnomAD v4:
2-85546353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546353G>A , CM000664.2:g.85546353G>A | GRCh38 |
| NC_000002.11:g.85773476G>A , CM000664.1:g.85773476G>A | GRCh37 |
| NC_000002.10:g.85626987G>A | NCBI36 |
| NG_011811.2:g.20182C>T | |
| NG_029183.1:g.12376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3581C>T MANE Select | ENSP00000233838.3:n.*3581C>T | |
| ENST00000233838.8:c.*3581C>T | ENSP00000233838.3:n.*3581C>T | |
| NM_000821.5:c.*3581C>T | NP_000812.2:n.*3581C>T | |
| NM_000821.6:c.*3581C>T | NP_000812.2:n.*3581C>T | |
| NM_001142269.2:c.*3581C>T | NP_001135741.1:n.*3581C>T | |
| NM_001142269.3:c.*3581C>T | NP_001135741.1:n.*3581C>T | |
| NM_000821.7:c.*3581C>T MANE Select | NP_000812.2:n.*3581C>T | |
| NM_001142269.4:c.*3581C>T | NP_001135741.1:n.*3581C>T |