Linked Data
ClinVar Variation Id:
1597418
ClinVar RCV Id:
RCV002127186
dbSNP Id:
rs1878409841
gnomAD v3:
12-102917061-C-G
gnomAD v4:
12-102917061-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917061C>G , CM000674.2:g.102917061C>G | GRCh38 |
| NC_000012.11:g.103310839C>G , CM000674.1:g.103310839C>G | GRCh37 |
| NC_000012.10:g.101834969C>G | NCBI36 |
| NG_008690.1:g.5542G>C | |
| NG_008690.2:g.46350G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.60+10G>C MANE Select | ENSP00000448059.1:n.60+10G>C | |
| ENST00000307000.7:c.-88+10G>C | ENSP00000303500.2:n.-88+10G>C | |
| ENST00000546844.1:c.60+10G>C | ENSP00000446658.1:n.60+10G>C | |
| ENST00000547319.1:n.371+10G>C | ||
| ENST00000549111.5:n.156+10G>C | ||
| ENST00000550978.6:c.44+10G>C | ||
| ENST00000551337.5:c.60+10G>C | ENSP00000447620.1:n.60+10G>C | |
| ENST00000551988.5:n.149+10G>C | ||
| ENST00000553106.5:c.60+10G>C | ENSP00000448059.1:n.60+10G>C | |
| ENST00000635500.1:n.29-4163G>C | ||
| NM_000277.1:c.60+10G>C | NP_000268.1:n.60+10G>C | |
| XM_011538422.1:c.60+10G>C | XP_011536724.1:n.60+10G>C | |
| NM_000277.2:c.60+10G>C | NP_000268.1:n.60+10G>C | |
| NM_001354304.1:c.60+10G>C | NP_001341233.1:n.60+10G>C | |
| XM_017019370.2:c.60+10G>C | XP_016874859.1:n.60+10G>C | |
| NM_000277.3:c.60+10G>C MANE Select | NP_000268.1:n.60+10G>C | |
| NM_001354304.2:c.60+10G>C | NP_001341233.1:n.60+10G>C |