Linked Data
ClinVar Variation Id:
305769
dbSNP Id:
rs372004236
gnomAD v2:
11-67803860-C-G
gnomAD v3:
11-68036393-C-G
gnomAD v4:
11-68036393-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036393C>G , CM000673.2:g.68036393C>G | GRCh38 |
| NC_000011.9:g.67803860C>G , CM000673.1:g.67803860C>G | GRCh37 |
| NC_000011.8:g.67560436C>G | NCBI36 |
| NG_007878.1:g.2378C>G , LRG_115:g.2378C>G | |
| NG_017040.1:g.10777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.501+12C>G MANE Select | ENSP00000315774.5:n.501+12C>G | |
| ENST00000313468.9:c.501+12C>G | ENSP00000315774.5:n.501+12C>G | |
| ENST00000524810.5:c.433+12C>G | ||
| ENST00000526339.5:c.501+12C>G | ENSP00000436287.1:n.501+12C>G | |
| ENST00000526446.5:c.*556+12C>G | ENSP00000433645.1:n.*556+12C>G | |
| ENST00000528492.1:c.63+12C>G | ENSP00000432848.1:n.63+12C>G | |
| ENST00000531282.1:n.353+12C>G | ||
| NM_002496.3:c.501+12C>G | NP_002487.1:n.501+12C>G | |
| XM_005274013.1:c.501+12C>G | XP_005274070.1:n.501+12C>G | |
| XM_005274014.1:c.501+12C>G | XP_005274071.1:n.501+12C>G | |
| XM_005274015.1:c.381+12C>G | XP_005274072.1:n.381+12C>G | |
| XM_011545053.1:c.501+12C>G | XP_011543355.1:n.501+12C>G | |
| NM_002496.4:c.501+12C>G MANE Select | NP_002487.1:n.501+12C>G |