Linked Data
ClinVar Variation Id:
1124626
ClinVar RCV Id:
RCV001456091
dbSNP Id:
rs753961299
gnomAD v2:
1-215940141-C-G
gnomAD v3:
1-215766799-C-G
gnomAD v4:
1-215766799-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766799C>G , CM000663.2:g.215766799C>G | GRCh38 |
| NC_000001.10:g.215940141C>G , CM000663.1:g.215940141C>G | GRCh37 |
| NC_000001.9:g.214006764C>G | NCBI36 |
| NG_009497.1:g.661598G>C | |
| NG_009497.2:g.661650G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10940-11G>C MANE Select | ENSP00000305941.3:n.10940-11G>C | |
| ENST00000674083.1:c.10940-11G>C | ENSP00000501296.1:n.10940-11G>C | |
| ENST00000307340.7:c.10940-11G>C | ENSP00000305941.3:n.10940-11G>C | |
| NM_206933.2:c.10940-11G>C | NP_996816.2:n.10940-11G>C | |
| NM_206933.3:c.10940-11G>C | NP_996816.2:n.10940-11G>C | |
| NM_206933.4:c.10940-11G>C MANE Select | NP_996816.3:n.10940-11G>C |