Linked Data
ClinVar Variation Id:
2985892
ClinVar RCV Id:
RCV003841499
dbSNP Id:
rs1426210550
gnomAD v2:
1-215940144-G-A
gnomAD v3:
1-215766802-G-A
gnomAD v4:
1-215766802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766802G>A , CM000663.2:g.215766802G>A | GRCh38 |
| NC_000001.10:g.215940144G>A , CM000663.1:g.215940144G>A | GRCh37 |
| NC_000001.9:g.214006767G>A | NCBI36 |
| NG_009497.1:g.661595C>T | |
| NG_009497.2:g.661647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10940-14C>T MANE Select | ENSP00000305941.3:n.10940-14C>T | |
| ENST00000674083.1:c.10940-14C>T | ENSP00000501296.1:n.10940-14C>T | |
| ENST00000307340.7:c.10940-14C>T | ENSP00000305941.3:n.10940-14C>T | |
| NM_206933.2:c.10940-14C>T | NP_996816.2:n.10940-14C>T | |
| NM_206933.3:c.10940-14C>T | NP_996816.2:n.10940-14C>T | |
| NM_206933.4:c.10940-14C>T MANE Select | NP_996816.3:n.10940-14C>T |