Linked Data
ClinVar Variation Id:
337202
ClinVar RCV Id:
RCV000367331
dbSNP Id:
rs6704863
gnomAD v2:
2-85773641-C-T
gnomAD v3:
2-85546518-C-T
gnomAD v4:
2-85546518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546518C>T , CM000664.2:g.85546518C>T | GRCh38 |
| NC_000002.11:g.85773641C>T , CM000664.1:g.85773641C>T | GRCh37 |
| NC_000002.10:g.85627152C>T | NCBI36 |
| NG_011811.2:g.20017G>A | |
| NG_029183.1:g.12541C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233838.9:c.*3416G>A MANE Select | ENSP00000233838.3:n.*3416G>A | |
| ENST00000233838.8:c.*3416G>A | ENSP00000233838.3:n.*3416G>A | |
| NM_000821.5:c.*3416G>A | NP_000812.2:n.*3416G>A | |
| NM_000821.6:c.*3416G>A | NP_000812.2:n.*3416G>A | |
| NM_001142269.2:c.*3416G>A | NP_001135741.1:n.*3416G>A | |
| NM_001142269.3:c.*3416G>A | NP_001135741.1:n.*3416G>A | |
| NM_000821.7:c.*3416G>A MANE Select | NP_000812.2:n.*3416G>A | |
| NM_001142269.4:c.*3416G>A | NP_001135741.1:n.*3416G>A |