Linked Data
ClinVar Variation Id:
337179
ClinVar RCV Id:
RCV000339638
dbSNP Id:
rs7605975
gnomAD v2:
2-85772548-C-T
gnomAD v3:
2-85545425-C-T
gnomAD v4:
2-85545425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85545425C>T , CM000664.2:g.85545425C>T | GRCh38 |
| NC_000002.11:g.85772548C>T , CM000664.1:g.85772548C>T | GRCh37 |
| NC_000002.10:g.85626059C>T | NCBI36 |
| NG_011811.2:g.21110G>A | |
| NG_029183.1:g.11448C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233838.9:c.*4509G>A MANE Select | ENSP00000233838.3:n.*4509G>A | |
| ENST00000233838.8:c.*4509G>A | ENSP00000233838.3:n.*4509G>A | |
| NM_000821.5:c.*4509G>A | NP_000812.2:n.*4509G>A | |
| NM_000821.6:c.*4509G>A | NP_000812.2:n.*4509G>A | |
| NM_001142269.2:c.*4509G>A | NP_001135741.1:n.*4509G>A | |
| NM_001142269.3:c.*4509G>A | NP_001135741.1:n.*4509G>A | |
| NM_000821.7:c.*4509G>A MANE Select | NP_000812.2:n.*4509G>A | |
| NM_001142269.4:c.*4509G>A | NP_001135741.1:n.*4509G>A |