Linked Data
ClinVar Variation Id:
2117906
ClinVar RCV Id:
RCV003053489
dbSNP Id:
rs1457813929
gnomAD v2:
12-103249117-T-C
gnomAD v3:
12-102855339-T-C
gnomAD v4:
12-102855339-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855339T>C , CM000674.2:g.102855339T>C | GRCh38 |
| NC_000012.11:g.103249117T>C , CM000674.1:g.103249117T>C | GRCh37 |
| NC_000012.10:g.101773247T>C | NCBI36 |
| NG_008690.1:g.67264A>G | |
| NG_008690.2:g.108072A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.510-7A>G MANE Select | ENSP00000448059.1:n.510-7A>G | |
| ENST00000307000.7:c.495-7A>G | ENSP00000303500.2:n.495-7A>G | |
| ENST00000549111.5:n.606-7A>G | ||
| ENST00000551988.5:n.531-7A>G | ||
| ENST00000553106.5:c.510-7A>G | ENSP00000448059.1:n.510-7A>G | |
| NM_000277.1:c.510-7A>G | NP_000268.1:n.510-7A>G | |
| XM_011538422.1:c.510-7A>G | XP_011536724.1:n.510-7A>G | |
| NM_000277.2:c.510-7A>G | NP_000268.1:n.510-7A>G | |
| NM_001354304.1:c.510-7A>G | NP_001341233.1:n.510-7A>G | |
| XM_017019370.2:c.510-7A>G | XP_016874859.1:n.510-7A>G | |
| NM_000277.3:c.510-7A>G MANE Select | NP_000268.1:n.510-7A>G | |
| NM_001354304.2:c.510-7A>G | NP_001341233.1:n.510-7A>G |