Linked Data
ClinVar Variation Id:
103340
ClinVar RCV Id:
RCV000089600
dbSNP Id:
rs199475892
gnomAD v3:
11-7071363-G-C
gnomAD v4:
11-7071363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7071363G>C , CM000673.2:g.7071363G>C | GRCh38 |
| NC_000011.9:g.7092594G>C , CM000673.1:g.7092594G>C | GRCh37 |
| NC_000011.8:g.7049170G>C | NCBI36 |
| NG_046900.1:g.55918G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299481.5:c.*55G>C MANE Select | ENSP00000299481.5:n.*55G>C | |
| NM_176822.3:c.*55G>C | NP_789792.1:n.*55G>C | |
| XM_011520044.1:c.2975+907G>C | XP_011518346.1:n.2975+907G>C | |
| XM_011520045.1:c.*55G>C | XP_011518347.1:n.*55G>C | |
| NM_176822.4:c.*55G>C MANE Select | NP_789792.1:n.*55G>C |