Linked Data
ClinVar Variation Id:
421249
dbSNP Id:
rs199740930
ExAC:
6:65767506 C / T
gnomAD v2:
6-65767506-C-T
gnomAD v3:
6-65057613-C-T
gnomAD v4:
6-65057613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65057613C>T , CM000668.2:g.65057613C>T | GRCh38 |
| NC_000006.11:g.65767506C>T , CM000668.1:g.65767506C>T | GRCh37 |
| NC_000006.10:g.65824227C>T | NCBI36 |
| NG_023443.1:g.654613G>A | |
| NG_023443.2:g.654613G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503581.6:c.2137+1G>A MANE Select | ENSP00000424243.1:n.2137+1G>A | |
| ENST00000370616.6:c.2137+1G>A | ENSP00000359650.2:n.2137+1G>A | |
| ENST00000370618.7:c.2137+1G>A | ENSP00000359652.4:n.2137+1G>A | |
| ENST00000370621.7:c.2137+1G>A | ENSP00000359655.3:n.2137+1G>A | |
| ENST00000503581.5:c.2137+1G>A | ENSP00000424243.1:n.2137+1G>A | |
| NM_001142800.1:c.2137+1G>A | NP_001136272.1:n.2137+1G>A | |
| NM_001292009.1:c.2137+1G>A | NP_001278938.1:n.2137+1G>A | |
| NM_001142800.2:c.2137+1G>A MANE Select | NP_001136272.1:n.2137+1G>A | |
| NM_001292009.2:c.2137+1G>A | NP_001278938.1:n.2137+1G>A |