Linked Data
ClinVar Variation Id:
103347
ClinVar RCV Id:
RCV000089607
dbSNP Id:
rs199475887
gnomAD v2:
11-7083402-C-T
gnomAD v3:
11-7062171-C-T
gnomAD v4:
11-7062171-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7062171C>T , CM000673.2:g.7062171C>T | GRCh38 |
| NC_000011.9:g.7083402C>T , CM000673.1:g.7083402C>T | GRCh37 |
| NC_000011.8:g.7039978C>T | NCBI36 |
| NG_046900.1:g.46726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299481.5:c.2805-162C>T MANE Select | ENSP00000299481.5:n.2805-162C>T | |
| ENST00000299481.4:c.2805-162C>T | ENSP00000299481.4:n.2805-162C>T | |
| NM_176822.3:c.2805-162C>T | NP_789792.1:n.2805-162C>T | |
| XM_011520044.1:c.2634-162C>T | XP_011518346.1:n.2634-162C>T | |
| XM_011520045.1:c.2634-162C>T | XP_011518347.1:n.2634-162C>T | |
| NM_176822.4:c.2805-162C>T MANE Select | NP_789792.1:n.2805-162C>T |